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Patients
I need help with…
Understanding hereditary cancer risk
What is my risk of developing hereditary cancer?
Treating cancer
What are my treatment options?
Guiding prenatal care
Am I having a boy or girl?
Is my baby at risk for a genetic condition?
Managing mental health
How might my genes affect my medication outcomes?
(sidebar parent)
About genetic testing
What are the costs of genetic testing?
Financial assistance
Patient Resources
How does genetic testing work?
Patient record request
Prostate Cancer
What are my treatment options?
Providers
My patient needs a test for…
Assessing hereditary cancer risk
What is my patient’s risk of developing hereditary cancer?
Cancer treatment
What is the best treatment for my patient?
Prenatal care
What is the predicted fetal sex of my patient’s baby?
What is a pregnancy’s risk of a genetic disease?
Mental health treatment
How will my patient metabolize or respond to certain medications?
(sidebar parent)
About our tests
Myriad test catalog
Research & whitepapers
MyRisk
®
gene table
EMR Integrations
Provider resources
Order a test
Order patient materials
Documents & forms
Scope of service & lab certificates
Provider portal
Prostate Cancer Treatment
What are my patient’s treatment options?
Biopharma
Our Tests
Tests for…
(column wrapper)
Prenatal care
Fetal sex
Chromosome conditions
Genetic diseases
Cancer risk assessment
Hereditary cancer
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Depression
Anxiety
ADHD
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Internal/Primary care
All tests
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BRACAnalysis CDx
®
EndoPredict
®
Foresight
®
GeneSight
®
MyChoice
®
CDx
MyRisk
®
(cancer treatment)
MyRisk
®
(cancer risk)
Prequel
®
Precise
™
Tumor
Prolaris
®
SneakPeek
®
About
About
(column wrapper)
About Myriad
Leadership
Investor relations
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Press releases
Careers
Contact
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Myriad Genetics Corporate Headquarters
322 North 2200 West
Salt Lake City, UT 84116
Corporate Phone:
(801) 584-3600
Corporate Fax:
(801) 584-3640
Publications
Clinical Validation Publications
Clinical Utility Publications
Analytical Validity Publications
Supporting Publications
Other Publications
Presentations
Posters
Title
Author
Journal
Publication Date
Multicenter Prospective Cohort Study of the Diagnostic Yield and Patient Experience of Multiplex Gene Panel Testing For Hereditary Cancer Risk
Gregory Idos
JCO Precision Oncology
03-28-2019
Design and validation of an oligonucleotide microarray for the detection of genomic rearrangements associated with common hereditary cancer syndromes
D. Mancini-DiNardo, T. Judkins, N. Woolstenhulme, C. Burton, J. Schoenberger, M. Ryder, A. Murray, N. Gutin, A. Theisen, J. Holladay, J. Craft, C. Arnell, K. Moyes, B. Roa
J. Exp. Clin. Cancer Res.
09-11-2014
Title
Author
Journal
Publication Date
Prevalence and characteristics of likely-somatic variants in cancer susceptibility genes among individuals who had hereditary pan-cancer panel testing
Thomas Slavin
Cancer Genetics
04-13-2019
Title
Author
Journal
Publication Date
Development and analytical validation of a 25-gene next generation sequencing panel that includes the BRCA1 and BRCA2 genes to assess hereditary cancer risk
T. Judkins, B. Leclair, K. Bowles, N. Gutin, J. Trost, J. McCulloch, S. Bhatnagar, A. Murray, J. Craft, B. Wardell, M. Bastian, J. Mitchell, J. Chen, T. Tran, D. Williams, J. Potter, S. Jammulapati, M. Perry, B. Morris, B. Roa, K. Timms
BMC Cancer
04-02-2014
Title
Author
Journal
Publication Date
Hereditary cancer testing challenges: assembling the analytical pieces to solve the patient clinical puzzle
Karla Bowles
Future Oncology
08-16-2018
Clinical testing with a panel of 25 genes associated with increased cancer risk results in a significant increase in clinically significant findings across a broad range of cancer histories.
Eric Rosenthal
Cancer Genetics
09-25-2017
Breast and Ovarian Cancer Penetrance Estimates Derived From Germline Multiple-Gene Sequencing Results in Women
Allison Kurian
JCO Precision Oncology
06-27-2017
Detection of somatic variants in peripheral blood lymphocytes using a next generation sequencing multigene pan cancer panel
Bradford Coffee, Hannah C. Cox, John Kidd, Scott Sizemore, Krystal Brown, Susan Manley, Debora Mancini-DiNardo
Cancer Genetics
01-16-2017
A study of over 35,000 women with breast cancer tested with a 25-gene panel of hereditary cancer genes
Saundra S. Buys, John F. Sandbach, Amanda Gammon, Gayle Patel, John Kidd, Krystal L. Brown, Lavania Sharma, Jennifer Saam, Johnathan Lancaster, Mary B. Daly
Cancer
01-13-2017
Assessment of in silico protein sequence analysis in the clinical classification of variants in cancer risk genes
Iain D. Kerr, Hannah C. Cox, Kelsey Moyes, Brent Evans, Brianna C. Burdett, Aric van Kan, Heather McElroy, Paris J. Vail, Krystal L. Brown, Dechie B. Sumampong, Nicholas J. Monteferrante, Kennedy L. Hardman, Aaron Theisen, Erin Mundt, Richard J. Wenstrup, Julie M. Eggington
Journal of Community Genetics
01-03-2017
Increased Identification of Candidates for High-Risk Breast Cancer Screening Through Expanded Genetic Testing
Eric T. Rosenthal, Brent Evans, John Kidd, Krystal Brown, Heidi Gorringe, Michael van Orman, Susan Manley
Journal of the American College of Radiology
12-20-2016
Classification of genetic variants in genes associated with Lynch syndrome using a clinical history weighting algorithm
Brian Morris, Elisha Hughes, Eric Rosenthal, Alexander Gutin, and Karla R. Bowles
BMC Genetics
07-01-2016
Title
Author
Journal
Publication Date
Association of a Polygenic Risk Score With Breast Cancer Among Women Carriers of High- and Moderate-Risk Breast Cancer Genes
Shannon Gallagher
JAMA Network Open
07-01-2020
Functional RNA Studies Are a Useful Tool in Variant Classification but Must Be Used With Caution: A Case Study of One BRCA2 Variant
Paola Nix
JCO Precision Oncology
06-24-2020
Development and Validation of a Clinical Polygenic Risk Score to Predict Breast Cancer Risk
Elisha Hughes
JCO Precision Oncology
06-08-2020
Prevalence of Pathogenic Variants in Cancer Susceptibility Genes Among Women With Postmenopausal Breast Cancer
Allison W Kurian 1, Ryan Bernhisel 2, Katie Larson 2, Jennifer L Caswell-Jin 1, Aladdin H Shadyab 3, Heather Ochs-Balcom 4, Marcia L Stefanick 1
03-10-2020
Detection of large rearrangements in a hereditary pan-cancer panel using next-generation sequencing
Debora Mancini-DiNardo 1, Thaddeus Judkins 2, John Kidd 2, Ryan Bernhisel 2, Courtney Daniels 2, Krystal Brown 2, Kirsten Meek 2, Jonathan Craft 2, Jayson Holladay 2, Brian Morris 2, Benjamin B Roa 2
10-17-2019
A substantial proportion of apparently heterozygous TP53 pathogenic variants detected with a next-generation sequencing hereditary pan-cancer panel are acquired somatically
Bradford Coffee 1, Hannah C Cox 1, Ryan Bernhisel 1, Susan Manley 1, Karla Bowles 1, Benjamin B Roa 1, Debora Mancini-DiNardo 1
09-23-2019
High risk of breast cancer in women with biallelic pathogenic variants in CHEK2
K Nones 1, J Johnson 2, F Newell 1, A M Patch 1, H Thorne 3, S H Kazakoff 1, X M de Luca 2, M T Parsons 4, K Ferguson 2, L E Reid 2, A E McCart Reed 2, S Srihari 5, V Lakis 1, A L Davidson 6, P Mukhopadhyay 1, O Holmes 7, Q Xu 7, S Wood 7, C Leonard 7, Kathleen Cuningham Foundation Consortium for Research into Familial Aspects of Breast Cancer (kConFab); Australian Breast Cancer Tissue Bank (ABCTB); Brisbane Breast Bank (BBB); J Beesley 8, J M Harris 9, D Barnes 10, A Degasperi 11, M A Ragan 12,
07-01-2019
Hereditary Cancer Risk Assessment and Genetic Testing in the Community-Practice Setting
Mark S DeFrancesco 1, Richard N Waldman, Melissa M Pearlstone, Dana Karanik, Ryan Bernhisel, Jennifer Logan, Lindsey Alico, Royce T Adkins
11-13-2018
Prevalence of Variant Reclassification Following Hereditary Cancer Genetic Testing
Jacqueline Mersch 1, Nichole Brown 1, Sara Pirzadeh-Miller 1, Erin Mundt 2, Hannah C Cox 2, Krystal Brown 2, Melissa Aston 2, Lisa Esterling 2, Susan Manley 2, Theodora Ross 1
09-25-2018
Psychological impact of multigene cancer panel testing in patients with a clinical suspicion of hereditary cancer across Spain
I Esteban 1 2, M Vilaró 3, E Adrover 4, A Angulo 5, E Carrasco 1, N Gadea 6, A Sánchez 7, T Ocaña 7, G Llort 8, R Jover 9, J Cubiella 10, S Servitja 11, M Herráiz 12, L Cid 13, S Martínez 14, M J Oruezábal-Moreno 15, I Garau 16, S Khorrami 17, A Herreros-de-Tejada 18, R Morales 19, J M Cano 20, R Serrano 21, M H López-Ceballos 22, S González-Santiago 22, M J Juan-Fita 23, C Alonso-Cerezo 24, A Casas 25, B Graña 26, A Teulé 27, E Alba 28, A Antón 29, C Guillén-Ponce 30, A B Sánchez-H
03-26-2018
Prevalence of germ-line mutations in cancer genes among pancreatic cancer patients with a positive family history
Kari G Chaffee 1, Ann L Oberg 1, Robert R McWilliams 2, Neil Majithia 2, Brian A Allen 3, John Kidd 3, Nanda Singh 3, Anne-Renee Hartman 3, Richard J Wenstrup 3, Gloria M Petersen 1
07-20-2017
Increased Identification of Candidates for High-Risk Breast Cancer Screening Through Expanded Genetic Testing
Eric T Rosenthal 1, Brent Evans 2, John Kidd 2, Krystal Brown 2, Heidi Gorringe 2, Michael van Orman 2, Susan Manley 2
04-14-2017
Prevalence and Spectrum of Germline Cancer Susceptibility Gene Mutations Among Patients With Early-Onset Colorectal Cancer
Rachel Pearlman 1, Wendy L Frankel 2, Benjamin Swanson 2, Weiqiang Zhao 2, Ahmet Yilmaz 2, Kristin Miller 2, Jason Bacher 2, Christopher Bigley 1, Lori Nelsen 1, Paul J Goodfellow 3, Richard M Goldberg 1, Electra Paskett 1, Peter G Shields 1, Jo L Freudenheim 4, Peter P Stanich 5, Ilene Lattimer 1, Mark Arnold 6, Sandya Liyanarachchi 7, Matthew Kalady 8, Brandie Heald 8, Carla Greenwood 9, Ian Paquette 10, Marla Prues 11, David J Draper 12, Carolyn Lindeman 12, J Philip Kuebler 13, Kelly Reynold
04-01-2017
Optimization of quality assurance to increase clinical utility and cost effectiveness of hereditary cancer testing
Serenedy Smith 1, Ingrid Marino 1, Jeanie Schaller 1, Christopher Arnell 1, Kelsey Moyes 1, Susan Manley 1
03-29-2017
Identification of pathogenic retrotransposon insertions in cancer predisposition genes
Yaping Qian 1, Debora Mancini-DiNardo 1, Thaddeus Judkins 1, Hannah C Cox 1, Krystal Brown 1, Maria Elias 1, Nanda Singh 1, Courtney Daniels 1, Jayson Holladay 1, Bradford Coffee 1, Karla R Bowles 1, Benjamin B Roa 2
03-29-2017
Enumeration and targeted analysis of KRAS, BRAF and PIK3CA mutations in CTCs captured by a label-free platform: Comparison to ctDNA and tissue in metastatic colorectal cancer
Evelyn Kidess-Sigal 1 2, Haiyan E Liu 3, Melanie M Triboulet 2, James Che 3, Vishnu C Ramani 2, Brendan C Visser 2, George A Poultsides 2, Teri A Longacre 4, Andre Marziali 5, Valentina Vysotskaia 6, Matthew Wiggin 5, Kyra Heirich 2, Violet Hanft 2, Ulrich Keilholz 7, Ingeborg Tinhofer 8, Jeffrey A Norton 2, Mark Lee 9, Elodie Sollier-Christen 3, Stefanie S Jeffrey 2
12-20-2016
Germline multi-gene hereditary cancer panel testing in an unselected endometrial cancer cohort
Kari L Ring 1, Amanda S Bruegl 2, Brian A Allen 3, Eric P Elkin 3, Nanda Singh 3, Anne-Renee Hartman 3, Molly S Daniels 1, Russell R Broaddus 4
11-29-2016
Synchronous Onset of Breast and Pancreatic Cancers: Results of Germline and Somatic Genetic Analysis
Michael Castro 1, Koah Vierkoetter 2, Douglas Prager 3, Shasta Montgomery 1, Kristin Sedgwick 4
07-21-2016
Complexities of Variant Classification in Clinical Hereditary Cancer Genetic Testing
Kara N Maxwell 1, Steven N Hart 2, Joseph Vijai 3, Kasmintan A Schrader 4, Thomas P Slavin 5, Tinu Thomas 3, Bradley Wubbenhorst 6, Vignesh Ravichandran 3, Raymond M Moore 2, Chunling Hu 7, Lucia Guidugli 7, Brandon Wenz 6, Susan M Domchek 8, Mark E Robson 9, Csilla Szabo 10, Susan L Neuhausen 11, Jeffrey N Weitzel 5, Kenneth Offit 9, Fergus J Couch 7, Katherine L Nathanson 12
05-05-2016
Frequency of Germline Mutations in 25 Cancer Susceptibility Genes in a Sequential Series of Patients With Breast Cancer
Nadine Tung 1, Nancy U Lin 2, John Kidd 2, Brian A Allen 2, Nanda Singh 2, Richard J Wenstrup 2, Anne-Renee Hartman 2, Eric P Winer 2, Judy E Garber 2
03-14-2016
Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome
https://pubmed.ncbi.nlm.nih.gov/25980754/
05-14-2015
Development and analytical validation of a 25-gene next generation sequencing panel that includes the BRCA1 and BRCA2 genes to assess hereditary cancer risk
Thaddeus Judkins 1, Benoît Leclair 2, Karla Bowles 3, Natalia Gutin 4, Jeff Trost 5, James McCulloch 6, Satish Bhatnagar 7, Adam Murray 8, Jonathan Craft 9, Bryan Wardell 10, Mark Bastian 11, Jeffrey Mitchell 12, Jian Chen 13, Thanh Tran 14, Deborah Williams 15, Jennifer Potter 16, Srikanth Jammulapati 17, Michael Perry 18, Brian Morris 19, Benjamin Roa 20, Kirsten Timms 21
04-02-2015
Exceptions to the rule: case studies in the prediction of pathogenicity for genetic variants in hereditary cancer genes
E T Rosenthal 1, K R Bowles 1, D Pruss 1, A van Kan 1, P J Vail 1, H McElroy 1, R J Wenstrup 1
02-11-2015
Hereditary cancer-associated mutations in women diagnosed with two primary cancers: an opportunity to identify hereditary cancer syndromes after the first cancer diagnosis
Jennifer Saam 1, Kelsey Moyes, Michelle Landon, Kayon Williams, Rajesh R Kaldate, Christopher Arnell, Richard Wenstrup
12-11-2014
BRCA1, BRCA2, PALB2, and CDKN2A mutations in familial pancreatic cancer: a PACGENE study
David B Zhen 1, Kari G Rabe 2, Steven Gallinger 3, Sapna Syngal 4, Ann G Schwartz 5, Michael G Goggins 6, Ralph H Hruban 6, Michele L Cote 5, Robert R McWilliams 7, Nicholas J Roberts 8, Lisa A Cannon-Albright 9, Donghui Li 10, Kelsey Moyes 11, Richard J Wenstrup 11, Anne-Renee Hartman 11, Daniela Seminara 12, Alison P Klein 6, Gloria M Petersen 2
11-20-2014
Analysis of current testing practices for biallelic MUTYH mutations in MUTYH-associated polyposis
M Landon 1, S Ceulemans, D S Saraiya, B Strike, C Arnell, L A Burbidge, K Moyes, A Theisen, P H Fernandes, J Q Ji, B Abbott, R R Kaldate, B Roa
05-10-2014
Comprehensive sequencing of PALB2 in patients with breast cancer suggests PALB2 mutations explain a subset of hereditary breast cancer
Priscilla H Fernandes 1, Jennifer Saam, Jenny Peterson, Elisha Hughes, Rajesh Kaldate, Shelly Cummings, Aaron Theisen, Sonia Chen, Jeffrey Trost, Benjamin B Roa
01-10-2014
The PREMM(1,2,6) Model Predicts Risk of MLH1, MSH2, and MSH6 Germline Mutations Based on Cancer History
Fay Kastrinos, Ewout W. Steyerberg, Rowena Mercado, Judith Balmaña, Spring Holter, Steven Gallinger, Kimberly D. Siegmund, James M. Church, Mark A. Jenkins, Noralane M. Lindor, Stephen N. Thibodeau, Lynn Anne Burbidge, Richard J. Wenstrup, Sapna Syngal
Gastroenterology
11-01-2012
Prediction of MLH1 and MSH2 Mutations in Lynch Syndrome
Judith Balmaña, David H. Stockwell, Ewout W. Steyerberg, Elena M. Stoffel, Amie M. Deffenbaugh, Julia E. Reid, Brian Ward, Thomas Scholl, Brant Hendrickson, John Tazelaar, Lynn Anne Burbidge, Sapna Syngal
JAMA
09-27-2006
Title
Author
Conference
Publication Date
Comprehensive breast cancer (BC) risk assessment for CHEK2 carriers incorporating a polygenic risk score (PRS) and the Tyrer-Cuzick (TC) model
Shannon Hughes
06-04-2020
Characteristics and Clinical Correlations of Likely Mosaic Large Rearrangements Identified by a Hereditary Pan-Cancer NGS Panel Test
Shujuan Pan
04-03-2019
Validation of a combined residual risk score for healthy unaffected women presenting to breast cancer screening centers
Kathryn Dalton
06-03-2018
Pheno Analysis is a Highly Accurate and Robust Variant Classification Algorithm with High Tolerance for Reported Clinical History Errors
Karla Bowles
05-09-2018
Title
Author
Conference
Publication Date
The Role of Allele-Specific RNA Analysis in Hereditary Cancer Variant Classification
Erin Mundt
11-17-2020
Multigene assessment of genetic risk for multiple primary breast cancers.
10-26-2020
Polygenic Breast Cancer Risk Modification in Carriers of High and Intermediate Risk Gene Mutations
Elisha Hughes
12-14-2019
Cancer risks associated with pathogenic variants in the ataxia telangiectasia mutated (ATM) gene
Michael Hall
12-13-2019
RNA Research Program Continues to be a Valuable Tool in Variant Reclassification
Susana San Roman
11-05-2019
Clinical utility of hereditary cancer panel testing: impact of PALB2, ATM, CHEK2, NBN, BRIP1, RAD51C, and RAD51D results on patient management and adherence to provider recommendations
Katie Johansen Taber
11-05-2019
A Novel Pathogenic Variant in APC Intron 14 Contributing to FAP
Maria Elias
11-03-2019
Case of a synonymous variant in MLH1 with clinical significance
Lindsay Kipnas
11-03-2019
Functional classification of selected exonic splicing variants occurring outside of 5’ and 3’ exon boundaries in cancer-predisposing genes
Paola Nix
10-17-2019
Common variants in PMS2CL that can present in PMS2 as pathogenic variants with extremely low frequencies
Shuiuan Pan
10-16-2019
Preventive Surgery after Multiplex Genetic Panel Testing (MGPT)
Gregory Idos
06-03-2019
Hereditary Cancer Genetic Testing Among Patients with Pancreatic Cancer
Nassim Taherlan
06-03-2019
A novel method for unbiased risk prediction and its application to the combined residual
Elisha Hughes
05-07-2019
Cancer Phenotype of Biallelic CHEK2 Mutation Carriers
Irene Rainville
05-07-2019
Opportunity for Cancer Prevention: 1 in 4 Unaffected Women Meet Hereditary Cancer Testing Criteria
Leslie Bucheit
05-05-2019
Pan-Cancer Panel Testing: Variation in Testing and Results by Ancestry
Eva Chalas
05-05-2019
Clinical Utility of Testing for PALB2, ATM, CHEK2, NBN, BRIP1, RAD51C, and RAD51D Management Changes and Patient Adherence to Provider Recommendations
Katie Johansen Taber
04-03-2019
Genetic Testing Contributes Significantly to Improved Identification of Women Eligible for Increased Breast Cancer Screening Compared to Remaining Lifetime Risk Models Alone
Heidi Gorringe
12-07-2018
Development and Validation of a Polygenic Score to Predict Breast Cancer Risk in Unaffected Hispanic Women Negative for Mutations on a Multi-Gene Hereditary Cancer Panel
Elisha Hughes
12-07-2018
Associations between Clinical Factors in v7.02 of the Tyrer-Cuzick Model and a SNP-Based European Ancestry Residual Risk Score
Elisha Hughes
12-07-2018
Defining the spectrum of germline variants among African American patients with triple negative breast cancer
Holly Pederson
12-05-2018
Promoting Breast Cancer Screening after Multiplex Genetic Testing and Genetic Counseling
Gregory E. Idos, MD
06-02-2018
Promoting Colorectal Cancer Screening after Multiplex Genetic Testing and Genetic Counseling
Gregory E. Idos, MD
06-02-2018
Comparison of Cancer Risks in Truncating versus Missense Pathogenic CHEK2 Variants
Erin Mundt
05-10-2018
Validation of a Combined Residual Risk Score to Predict Breast Cancer Risk
Elisha Hughes
05-09-2018
Performance of current Hereditary Breast and Ovarian Cancer (HBOC) testing criteria for the detection of carriers of pathogenic variants in clinically significant breast cancer risk genes other than BRCA1/2
Eric Rosenthal
05-09-2018
Families with a Known Mutation in a Cancer Predisposition Gene: Is Single Site Testing Always the Best Option for Relatives?
Jamie Willmott
05-09-2018
Hereditary Cancer Genetic Testing in Community-Based Obstetrics and Gynecology Settings
Mark DeFrancesco
04-28-2018
Development and Validation of a Combined Residual Risk Score to Predict Breast Cancer Risk in Unaffected Women Negative for Mutations on a Multi-Gene Hereditary Cancer Panel
Elisha Hughes
04-20-2018
Mosaic Deletion of the APC Gene is Associated with an Increased Risk of Hematological Malignancy
Heather LaBreche
04-13-2018
Variant Interpretation when Multiple Amino Acid Changes are Present at the Same Codon Position
Matthew Comeaux
04-12-2018
Evaluation Of Data Quality In Public Databases Is Critical Before Its UseAs Evidence In Clinical Variant Classification
Hannah Cox
04-12-2018
Inherited Germline Mutations in Men with Prostate Cancer
Robert Reid
02-09-2018
Development and Validation of a Combined Residual Risk Score to Predict Breast Cancer Risk in Unaffected Women Negative for Mutations on a Multi-Gene Hereditary Cancer Panel
Elisha Hughes
12-06-2017
Spectrum of Pathogenic Variants in the Juvenile Polyposis Genes SMAD4 and BMPR1A Using a Multi-Gene Hereditary Cancer Panel
Melanie Jones, Kaylee Henson, Ryan Bernhisel, Michelle Landon, Bradford Coffee
10-20-2017
Genetic Testing Outcomes in Patients with Abnormal Immunohistochemistry (IHC) Staining of the Mismatch-Repair (MMR) Proteins
Shujuan Pan, Hannah C. Cox, Krystal Brown, Erin Mundt, Michelle Landon, Jamie Willmott, Heidi Gorringe, Karla Bowles, Bradford Coffee, Debora Mancini-DiNardo
10-20-2017
The Prevalence of Mosaicism in Common Cancer Susceptibility Genes from 232,328 Individuals Undergoing Sequential Testing
Thomas P. Slavin, Bradford Coffee, Hannah C. Cox, Ryan Bernhisel, Krystal Brown, Guido Marcucci, Jeffrey Weitzel, Susan L. Neuhausen, Debora Mancini-DiNardo
10-19-2017
Large Rearrangement Analysis in GREM1 and the Identification of Novel Deletions and Duplications
Debora Mancini-DiNardo, Erin Mundt, Thaddeus Judkins, Jayson Holladay, Karla R. Bowles, Benjamin B. Roa
10-18-2017
Development and Validation of a Residual Risk Score to Predict Breast Cancer Risk in Unaffected Women Negative for Mutations on a Multi‐Gene Hereditary Cancer Panel
Elisha Hughes, Thaddeus Judkins, Susanne Wagner, Eric Rosenthal, Richard Wenstrup, Jerry S Lanchbury, Alexander Gutin
09-15-2017
Variant Reclassification in a Clinical Cohort: A Decade of Experience
Jacqueline Mersch, Nichole Brown, Sara Pirzadeh-Miller, Erin Mundt, Hannah C Cox, Melissa Aston, Krystal Brown, Lisa Esterling, Susan Manley, Theodora Ross
09-15-2017
Performance of NCCN Guidelines in Identifying Hereditary Breast and Ovarian Cancer Syndrome and Lynch Syndrome: Results from a Large Cohort Study
Julie O. Culver, Charite Ricker, Duveen Sturgeon, Katherine Roth, Kerry E. Kingham, Rachel B. Koff, Katrina Lowstuter, Nicolette M. Chun, Alexandra Lebensohn, Courtney Rowe-Teeter, Peter Levonian, Kate Partynski, Karlena Lara-Otero, Christine Hong, Meredith A. Mills, Anne-Renee Hartman, Brian Allen, Krystal Brown, Kevin McDonnell , Uri Ladabaum, James M. Ford, Stephen B. Gruber, Allison Kurian, Gregory Idos
09-15-2017
Multi-Gene Hereditary Cancer Testing among Men with Breast Cancer
Krystal Brown, Gregory Calip, Ryan Bernhisel, Brent Evans, Eric Rosenthal, Jennifer Saam,Johnathan Lancaster, Kent Hoskins
06-05-2017
Quantifying Gender Ascertainment Bias in Hereditary Cancer Testing
Anthony Chen, Allison Anguiano, Ryan Bernhisel, Krystal Brown, Heidi Gorringe, Susan Manley
06-05-2017
Development and Validation of a Residual Risk Score to Predict Breast Cancer Risk in Unaffected Women Negative for Mutations on a Multi-Gene Hereditary Cancer Panel
Elisha Hughes, Thaddeus Judkins, Susanne Wagner, Richard Wenstrup, Jerry S. Lanchbury, Alexander Gutin
06-05-2017
Performance of Mutation Risk Prediction Models in a Racially Diverse Multi-Gene Panel Testing Cohort
Gregory E. Idos, Katherine Roth, Leah Naghi, Charité Ricker, Duveen Sturgeon, Julie Culver, Kerry Kingham, Rachel Koff, Nicollette M. Chun, Courtney Rowe-Teeter, Anne-Renee Hartman, Brian Allen, Brent Evans, Meredith Mills, Christine Hong, Kevin Mcdonnell, Uri Ladabaum, James M. Ford, Stephen B. Gruber, Allison W. Kurian
06-05-2017
Yield of Multiplex Panel Testing Exceeds Expert Opinion and Validated Prediction Models
Gregory E. Idos, Allison W. Kurian, Charité Ricker, Duveen Sturgeon, Julie Culver, Kerry Kingham, Rachel Koff, Nicolette M. Chun, Courtney Rowe-Teeter, Katrina Lowstuter, Anne-Renee Hartman, Brian Allen, John Kidd, Meredith Mills, Cindy Ma, Christine Hong, Kevin McDonnell, Uri Ladabaum, James M. Ford, Stephen B. Gruber
06-05-2017
Safety of Multiplex Gene Testing for Inherited Cancer Risk in a Fully Accrued Prospective Trial
Allison W. Kurian, Gregory Idos, Charité Ricker, Julie Culver, Duveen Sturgeon, Kerry E. Kingham, Rachel B. Koff, Katrina Lowstuter, Nicolette M. Chun, Courtney Rowe-Teeter, Katlyn Partynski, Anne-Renee Hartman, Brian Allen, John Kidd, Meredith A. Mills, Christine Hong, Kevin McDonnell, Uri Ladabaum, James M. Ford, and Stephen B. Gruber
06-05-2017
Prevalence and Characterization of Triplications in Genes Associated with Hereditary Cancers
eather G. LaBreche, Alison Brown, Thaddeus Judkins, Karla Bowles, Bradford Coffee
03-24-2017
Complexities in Hereditary Cancer Variant Classification: Three Case Examples
Erin Mundt, ; Paola Nix, Karla Bowles, Susan Manley
03-24-2017
Apparent Gene Conversion Event Detected in CHEK2 using Next Generation Sequencing Analysis
Shujuan Pan, Alison Brown, Jack Landon, Thaddeus Judkins, Irene Elliott, Matthew Comeaux, Karla Bowles, Debora Mancini-DiNardo
03-24-2017
Case Report: Sub-Clinical Fanconi Anemia in Siblings with Biallelic BRIP1 Mutations
Jamie Willmott, Maria Elias, Bryan Warf, Heidi Gorringe, Susan Manley
03-24-2017
A Significant Proportion of TP53 Pathogenic Variants Detected with a Hereditary Pan-Cancer NGS Panel Are Somatically Acquired
Bradford Coffee, Debora Mancini-DiNardo, Hannah C. Cox, Ryan Bernhisel, Susan Manley, Karla Bowles, Benjamin B. Roa
03-23-2017
A description of women with the pathogenic variants in the ovarian cancer risk genes BRIP1, RAD51C, RAD51D identified through clinical testing with a hereditary cancer panel
Lydia Usha, Susana San Roman, Heidi Gorringe, Ryan Bernhisel, Krystal Brown, Jennifer Saam, Susan Manley
03-15-2017
Genetic Testing for HBOC among Women with a Personal Diagnosis of Breast Cancer in Patients with Medicaid as Compared to Patients with Private Insurance
Paul Baron, Kisha Johnson-Isidore, Lisa Miller, Krystal Brown, John Kidd, Jennifer Saam
12-08-2016
Trends in Age of Breast Cancer Diagnosis for Women with Pathogenic Variants in Genes Associated with Increased Breast Cancer Risk
Heidi Gorringe, Eric Rosenthal, John Kidd, Ryan Bernhisel, Krystal Brown, Susan Manley
12-08-2016
NGS Facilitates Identification of Retrotransposon Insertional Mutations in Hereditary Cancer Genes
Y Qian, D. Mancini‐DiNardo, H.C. Cox, T. Judkins, M. Elias, N. Singh, K. Brown, B. Coffee, K. Bowles, B. Roa
10-20-2016
PMS2CL‐hybrid alleles containing PMS2 sequence and other PMS2CL‐derived large rearrangements: The importance of correct interpretation of dosage alteration analysis in PMS2
N. Singh, D. Mancini‐DiNardo, B. Leclair, K. Brown, E. Goossen, K. Bowles, B. Roa, M. Jones
10-20-2016
Characterization of TP53 Sequencing Variants Initially Detected in Peripheral Blood using NGS Analysis
Debora Mancini-DiNardo, Bradford Coffee, Hannah C. Cox, Krystal Brown, Susan Manley, Karla R. Bowles, Benjamin B. Roa
10-19-2016
Diagnostic Detection, Characterization & Classification of Partial Single Exon Large Rearrangements in Hereditary Cancer Genes
Benjamin B. Roa, Priscilla H. Fernandes, Brian Morris, Debora Mancini-DiNardo, Karla R. Bowles
10-19-2016
Prevalence of Monoallelic MUTYH Carrier Status in Patients of Varied Ancestries Ascertained for Clinical Hereditary Cancer Risk Testing
Brandie Leach, Eric Rosenthal, John Kidd, Krystal Brown, Heidi Gorringe, Susan Manley
10-03-2016
Unsuspected Lynch Syndrome due to Pathogenic Variants in MSH6 and PMS2
Eric Rosenthal, Jamie Willmott, John Kidd, Susan Manley
10-03-2016
Ancestry-Based Cancer Risks Associated with APC I1307K
Lavania Sharma, John Kidd, Krystal Brown, Heidi Gorringe, Michelle Landon, Susan Manley, Brandie Leach
09-30-2016
Average Age of Diagnosis of Ovarian Cancer for Women with Pathogenic Variants in BRIP1, RAD51C and RAD51D
Susana San Roman, Heidi Gorringe, Jennifer Saam, John Kidd, Susan Manley, Lydia Usha
09-30-2016
Identification of APC I1307K Among a Cohort of Patients Undergoing a Pan‐Cancer Gene Panel: Analysis of Ancestry‐Based Cancer History
Brandie Leach, John Kidd, Krystal Brown, Heidi Gorringe, Michelle Landon, Susan Manley, Lavania Sharma
09-29-2016
Favorable Psychosocial Outcomes in Higher or Moderate Risk Mutation Carriers Identified by Hereditary Cancer Panel Testing
Julie Culver, Charite Ricker, Allison W. Kurian, Rachel B. Koff, Duveen Sturgeon, Katrina Lowstuter, Christine Hong, Anne-Renee Hartman, Brian Allen, Courtney Rowe-Teeter, Kerry E. Kingham, Alexandra Lebensohn, Nicolette M. Chun, Peter Levonian, Iva M. Petrovchich, Meredith A. Mills, Kevin McDonnel , Uri Ladabaum, James M. Ford, Stephen B. Gruber, Gregory Idos
09-29-2016
Prevalence of germline cancer susceptibility gene mutations in a clinic-based series of colorectal cancer patients
Matthew B. Yurgelun, Brian Allen, Lauren K. Brais, Philip G. McNamara, Chinedu I. Ukaegbu, Hajime Uno, John Kidd, Nanda Singh, Jason L. Hornick, Richard J. Wenstrup, Charles S. Fuchs, Matthew H. Kulke, Anne-Renee Hartman, Sapna Syngal
06-07-2016
Safety of Multiplex Gene Testing for Inherited Cancer Risk: Interim Analysis of a Clinical Trial
Allison W. Kurian, Gregory Idos, Julie Culver, Charite Ricker, Rachel Koff, Duveen Sturgeon, Katrina Lowstuter, Anne-Renee Hartman, Brian Allen, John Kidd, Courtney Rowe-Teeter, Kerry Kingham, Nicolette Chun, Iva Petrovchich, Meredith Mills, Christine Hong, Kevin McDonnell, Uri Ladabaum, James Ford, and Stephen Gruber
06-07-2016
Detection of Somatic Variants in Peripheral Blood Lymphocytes Using a 25-Gene Hereditary Cancer Panel
Bradford Coffee, Hannah C. Cox, Scott Sizemore, Susan Manley, Debora Mancini-DiNardo
06-06-2016
Magnitude of Invasive Breast Cancer Risk Associated with Mutations Detected by Multiple-Gene Germline Sequencing in 95,561 Women
Michael J. Hall, Elisha Hughes, Elizabeth A. Handorf, Alexander Gutin, Brian Morris, Brian Allen, Anne-Renee Hartman, Allison W. Kurian
06-06-2016
Ovarian Cancer Risk Associated with Mutations Detected by Multiple-Gene Germline Sequencing in 95,561 Women
Allison W. Kurian, Elisha Hughes, Elizabeth Handorf, Alexander Gutin, Brian Allen, Anne-Renee Hartman, Michael J. Hall
06-06-2016
Yield of Multiplex Panel Testing Exceeds Expert Opinion and Validated Prediction Models
Gregory E Idos, Allison W Kurian, Charité Ricker , Duveen Sturgeon, Julie Culver, Katrina Lowstuter, Anne-Renee Hartman, Brian Allen, Kerry Kingham, Rachel Koff, Courtney-Rowe Teeter, Nicolette M. Chun , Meredith Mills, Iva Petrovchich, Christine Hong, John Kidd, Kevin McDonnell, Uri Ladabaum, James M Ford, Stephen B Gruber
06-06-2016
Genetic heterogeneity and survival among pancreatic adenocarcinoma (PDAC) patients with positive family history
Kari G. Chaffee, Robert R. McWilliams, Neil Majithia, Brian A. Allen, John Kidd, Nanda Singh, Anne-Renee Hartman, Ann L. Oberg, Gloria M. Petersen
06-04-2016
Enhancement of History Weighting Analysis to Accurately Classify Variants in High and Moderate Risk Cancer Panel Genes
Karla R. Bowles, Brian Morris, Elisha Hughes, Dmitry Pruss, Priscilla H. Fernandes, Benjamin B. Roa, Alexander Gutin
05-12-2016
Genetic Testing of Individuals Diagnosed with Breast or Ovarian Cancer who Meet Testing Guidelines: Trends in Utah, 2008-2012
S. Colonna, W. Kohlmann, S. Edwards, A. Gammon, J. Saam, C. Roundy, C. Sweeney, K. Herget, A. Fraser, S. Buys
05-12-2016
Outcomes of Chromosome Breakage Analysis as a Tool for BRCA2 Variant Reclassification
Erin Mundt, Heather McElroy, Paris Vail, Lisa Esterling, Susan B. Olson, Susan Manley
05-12-2016
Structural Biology in Variant Classification
Iain D. Kerr, Paola Nix, Lisa Esterling, Karla R. Bowles, Benjamin B. Roa, Susan Manley
05-12-2016
Are Cancer Risks for the CHEK2 Founder Mutation c.1100del Applicable to Other Pathogenic Variants in CHEK2?
Amanda Gammon, John Abernethy, Eric Rosenthal, Heidi Gorringe, Krystal Brown, John Kidd, Susan Manley
05-11-2016
RNA Research Program To Aid In The Reclassification Of Genetic Variants That Alter Splicing
M.Bryan Warf, Elizabeth Goossen, Jamie Willmott, Susana San Roman, Michelle Landon, Karla R. Bowles, Benjamin B. Roa
05-11-2016
Prevalence of BRCA1/2-Negative Women Who Qualify for Adjunctive Breast MRI Screening
Heidi Gorringe, Eric Rosenthal, Michael Van Orman, John Kidd, Krystal Brown, Royce T. Adkins
04-11-2016
Reclassification of Uncertain Variants Identified in High and Moderate Cancer Risk Genes Using History Weighting Analysis
Karla R. Bowles, Brian Morris, Elisha Hughes, Dmitry Pruss, Benjamin B. Roa, Alexander Gutin
03-11-2016
Detailed Review of Four Patients Affected with Cancer that were Previously Unaffected at the Time of Single Syndrome Testing and Subsequently had Pathogenic Variants Identified by a 25-Gene Panel
Allison Anguiano, Heidi Gorringe, John Kidd, Krystal Brown, Susan Manley
03-10-2016
Characterization of Li-Fraumeni syndrome diagnosed using a 25-gene hereditary cancer panel
Robert Lufkin, Thereasa Rich, Marianne Lotito, John Kidd, Jennifer Saam, Johnathan Lancaster
12-11-2015
Multiplex Identification of genetic etiologies among women with bilateral breast cancer using a 25-gene hereditary cancer panel
Jeffrey N Weitzel, Kathleen R Blazer, Bita Nehoray, John Kidd, Thomas P Slavin Jr., Ilana Solomon, Mariana Niell-Swiller, Christina Rybak, Jennifer Saam, Johnathan Lancaster
12-11-2015
The Patient Experience in a Prospective Trial of Multiple-Gene Panel Testing for Cancer Risk
Allison W. Kurian, Gregory Idos, Kevin McDonnell, Charite Ricker, Duveen Sturgeon, Julie Culver, Katrina Lowstutter, Anne-Renee Hartman, Brian Allen, Courtney Rowe-Teeter, Kerry E. Kingham, Rachel B. Koff, Alexandra Lebensohn, Nicolette M. Chun, Iva M. Petrovchich, Meredith A. Mills, Christine Hong, Uri Ladabaum, James M. Ford, Stephen B. Gruber
12-10-2015
Interim Analysis of Multiplex Gene Panel Testing for Inherited Susceptibility to Breast Cancer
Gregory E Idos, Allison W Kurian, Kevin Mcdonnell, Charite Ricker, Duveen Sturgeon, Julie Culver, Katrina Lowstuter, Anne-Renee Hartman, Brian Allen, Courtney-Rowe Teeter, Kerry Kingham, Rachel Koff, Alexandra Lebensohn, Nicollette M. Chun, Meredith Mills, Iva Petrovchich, Christine Hong, Uri Ladabaum, James M Ford, Stephen B Gruber
12-10-2015
Predisposing Germline Mutations in an Unselected Academic Breast Cancer (BC) Cohort
Judy E Garber, Nadine M Tung, Eric P Elkin, Brian A Allen, Nanda U Singh, Richard Wenstrup, Anne-Renee Hartman, Eric P Winer, Nancy U Lin
12-09-2015
Identification of a Recurrent Pathogenic Variant in BRIP1
Susana San Roman, Eric Rosenthal, John Kidd, Susan Manley
10-23-2015
Outcomes of multi-gene testing for inherited cancer risk in patients of varied ancestries
Eric Rosenthal, Heidi McCoy, John Kidd, Krystal Brown, Susan Manley
10-23-2015
Pedigree modeling demonstrates that family history performs poorly for the identification of women with inherited risks for breast cancer
Hannah C Cox, Eric Rosenthal, Richard Wenstrup, Benjamin B Roa, Karla R Bowles
10-22-2015
Hereditary Cancer Testing in Patients of Ashkenazi Jewish Ancestry in the Era of Panel Testing
Janice Rinsky, Michelle Landon, John Kidd, Krystal Brown, Eric Rosenthal, Susan Manley
10-22-2015
Pathogenic mutations identified in patients with 6 or more colon polyps
Kim Grace, Brandie Leach, John Kidd, Jennifer Saam, Johnathan Lancaster
10-22-2015
GI Gap in Genetic Testing for Inherited Susceptibility to Colorectal Cancer
GE Idos, AW Kurian, KJ Mcdonnell, CN Ricker, DY Sturgeon, JO Culver, K Lowstuter, AR Hartman, B Allen, CR Teeter, KE Kingham, R Koff, A Lebensohn, NM Chun, MA Mills, C Hong, U Ladabaum, JM Ford, SB Gruber
10-16-2015
Clinical Presentations of Patients and Families Identified with Pathogenic Variants in CDH1
Daphne Chen, Eric Rosenthal, Jennifer Saam, John Kidd, Rick Wenstrup
10-14-2015
Does this patient need to be tested for Lynch Syndrome? Assessing the reliability of family history for ascertainment
H. C. Cox, E. Rosenthal, Y. Qian, B. Coffee, R. Wenstrup, B. B. Roa, K. R. Bowles
10-09-2015
Examining severity of cancer history in patients with pathogenic variants in ATM
John Abernethy, Eric Rosenthal, John Kidd, Paris Vail, Susan Manley
10-08-2015
Detection of Large Rearrangements in a Pan-cancer Gene Panel using Next Generation Sequencing
Debora Mancini-DiNardo, Thaddeus Judkins, Courtney Daniels, Jonathan Craft, Jayson Holladay, Benjamin B. Roa
10-08-2015
Comparison of a Literature Search Algorithm and Curated Publication Database with the Literature Content of Other Locus Specific Databases
Lisa Esterling, Dru DiFrancesco, Paola Nix, Jean-Paul De La O, Bradford Coffee, Susan Manley
10-08-2015
Analytical validation of a saliva collection and DNA extraction protocol increases accessibility to hereditary pan-cancer panel testing
Jared Cassiano, Jack Landon, Elizabeth Goossen, Debora Mancini-DiNardo, Benoît Leclair, Benjamin B. Roa
10-08-2015
Identification of Retrotransposon Insertion Mutations in Hereditary Cancer
Yaping Qian, Debora Mancini-DiNardo, Thaddeus Judkins, Hanna C. Cox, Courtney Daniels, Jayson Holladay, Matthew Ryder, Bradford Coffee, Karla R. Bowles, Benjamin B. Roa
10-08-2015
RNA functional studies for the classification of germline variants of uncertain significance that may impair splicing
M.B. Warf, E. Goosen, D. Mancini-DiNardo, J. Willmott, Y. Qian, M. Landon, K. Rushton, K.R. Bowles, B.B. Roa
10-07-2015
Spectrum of Mutations Identified in a 25-Gene Hereditary Cancer Panel for Patients with Breast Cancer
Lavania Sharma, Brent Evans, John Abernethy, Heidi McCoy, Krystal Brown, Karen Copeland, Jennifer Saam, Michelle Landon, Richard Wenstrup
06-09-2015
Outcomes of Clinical Testing for 76,000 Patients Utilizing a Panel of 25 Genes Associated with Increased Risk for Breast, Ovarian, Colorectal, Endometrial, Gastric, Pancreatic, Melanoma, and Prostate Cancers
Eric T. Rosenthal, Krystal Brown, John Kidd, Heidi McCoy, Brent Evans, Jennifer Saam, Susan Manley, Richard J. Wenstrup
06-01-2015
Assessment of the Clinical Presentation of Patients with at Least Two Pathogenic Mutations on Multigene Panel Testing
Jeffrey N. Weitzel, Kathleen R. Blazer, Bita Nehoray, John Kidd, Thomas P. Slavin, Ilana Solomon, Mariana Niell-Swiller, Christina Rybak, Jennifer Saam
06-01-2015
A Study of Triple-Negative Breast Cancer Patients Tested with a 25-Gene Panel of Hereditary Cancer Genes
John F. Sandbach, Gayle Patel, Elisabeth King, Brent Evans, John Kidd, Lucy R. Langer, Krystal Brown, Richard J. Wenstrup, Jennifer Saam
06-01-2015
Multi-Gene Panel Testing in an Unselected Endometrial Cancer Cohort
Kari L. Ring, Amanda S. Bruegl, Brian A. Allen, Eric P. Elkin, Nanda Singh, Anne-Renee Hartman, Russell R. Broaddus
06-01-2015
CDKN2A Pathogenic Variants Identified in Patients Tested with a 25-Gene Hereditary Cancer Panel
John Abernethy, Eric Rosenthal, John Kidd, Heidi McCoy, Susan Manley
03-27-2015
Development of a Novel History Weighting Algorithm for the Reclassification of Genetic Variants Identified in Genes Associated with Lynch Syndrome
Karla R. Bowles, Brian Morris, Elisha Hughes, M. Bryan Warf, Richard Wenstrup, Benjamin B. Roa, Dmitry Pruss
03-27-2015
Utilization of Mutation Co-Occurrence (MCO) Analysis as Evidence for Benign and Likely Benign Variant Classification
Bradford Coffee, Dmitry Pruss, Brian Morris, Elisha Hughes, Richard Wenstrup, Benjamin B. Roa, Karla R. Bowles
03-27-2015
Validation of Utilizing In Trans Co-Occurrence or Homozygosity to Downgrade the Classification of Genetic Variants in the BRCA1, BRCA2 and Lynch Syndrome Genes
Priscilla H. Fernandes, Maria C. Elias, Lisa Esterling, Bradford Coffee, Benjamin B. Roa, Karla R. Bowles
03-26-2015
Dosage Analysis by Next Generation Sequencing and Microarray CGH Indicates Putative Processed Pseudogenes in SMAD4 and NBN
Debora Mancini-DiNardo, Thad Judkins, Maria C. Elias, Courtney Daniels, Ammon Marshall, Jayson Holladay, Yaping Ryan Qian, Benjamin Roa
03-26-2015
Experience in the Community Oncology Practice With a 25-Gene Hereditary Cancer Panel
Sami Diab, Patricia Rodriguez, Anna Leininger, Lisa Clark, Mike F. Janicek, Ellen B. Smith, John Sandbach, Jennifer Saam, Lucy Langer
12-12-2014
Spectrum of Mutations Identified in a 25-Gene Hereditary Cancer Panel for Patients with Breast Cancer
Lavania Sharma, Brent Evans, John Abernethy, Heidi McCoy, Jennifer Saam, Michelle Landon, Richard Wenstrup
12-12-2014
Complexities in genetic testing for allogeneic bone marrow transplant recipients and patients with hematologic malignancies
Debora Mancini-DiNardo, Michelle Landon, Brian Abbott, Janice Rinsky, Maria Elias, Benjamin Roa
10-21-2014
The predictive power of breast cancer family history in the clinic
Hannah C. Cox, Eric Rosenthal, Richard Wenstrup, Benjamin B. Roa, Karla R. Bowles
10-19-2014
Determining the clinical significance of BRCA1 and BRCA2 intronic and exonic splicing variants
Karla R. Bowles, Nanda Singh, Ulrike P. Kappes, Erin Mundt, Bryan Warf, Brian Morris, Dmitry Pruss, Benjamin B. Roa, Richard Wenstrup
09-18-2014
Detection of Pathogenic Mutations in Moderate Penetrance Breast Cancer Genes Significantly Increases the Number of Patients Identified as Candidates for Increased Screening
Eric Rosenthal, Heidi McCoy, Kelsey Moyes, Brent Evans, Richard Wenstrup
09-18-2014
A review of Lynch Syndrome patients with colon cancer with little or no family history by age: A diagnostic laboratories experience
Michelle Landon, Jennifer Saam, Brent Evans, Kelsey Moyes, Richard Wenstrup
09-15-2014
Clinical presentations of MMR mutation positive patients with no personal or family history of colon or endometrial cancer
Praveen Kaushik, Brent Evans, Kelsey Moyes, Michelle Landon, Jennifer Saam, Richard Wenstrup
09-15-2014
Analysis of Patients with Two Hereditary Cancers (Breast/Ovarian or Colon/Endometrial) Who Met NCCN Genetic Testing Criteria After Their First Cancer
Jennifer Saam, Kelsey Moyes, Christopher Arnell, Michelle Landon, Rajesh R. Kaldate, Brian Strike, Kayon Williams, Lynn Anne Burbidge, Brian Abbott
06-02-2014
Evaluation of Breast Cancer Incidence in Lynch Syndrome Patients by MMR Gene
Jamie Willmott, Adam Johnson, Kelsey Moyes, Brent Evans, Christopher Arnell, Michelle Landon
06-01-2014
Impact of 25-gene panel testing and integrated risk management tool on medical management in hereditary cancer syndrome evaluation
Lucy R. Langer, Laurie Korst, Larry J. Geier, Jennifer Saam, Kelsey Moyes, Brent Evans, Lee S. Schwartzberg
06-01-2014
The Clinical Experience - Hereditary Cancer Testing by a 25-Gene Panel
Elias Obeid, Andrea D. Forman, Michael J. Hall, Veda N. Giri, Susan V. Montgomery, Kim L. Rainey, Christina R. Rybak, Kelsey Moyes, Jennifer Saam, Mary B. Daly
06-01-2014
A prospective evaluation of the feasibility of process engineering intervention on the screening and testing of Lynch syndrome in individuals with a personal and/or family history of Lynch-associated cancers
James A. DiSario, Daniel G. Luba, Colleen Rock, Devki Saraiya, Kelsey Moyes, Kristen Rushton, Maydeen M. Ogara, Mona Raphael, Dayna Zimmerman, Kimmie Garrido, Evelyn Silguero, Jonathan Nelson, Brian L. Abbott, Fay Kastrinos, Richard J. Wenstrup, Sapna Syngal
05-06-2014
Determining the Clinical Significance of Silent BRCA1 and BRCA2 Sequencing Variants
Karla R. Bowles, Brian Morris, Dmitry Pruss, Jack Ji, Nanda Singh, Benjamin B. Roa, Richard Wenstrup
03-28-2014
Align-GVGD, SIFT, Polyphen, MAPP-MMR, Grantham Analysis and Condel are Weak Predictors of the Clinical Significance for Missense Variants
Iain D. Kerr, Kelsey Moyes, Brianna C. Burdett, Aric van Kan, Heather McElroy, Paris J. Vail, Dechie B. Sumampong, Nicholas J. Monteferrante, Kennedy L. Hardman, Richard J. Wenstrup , Julie M. Eggington
03-28-2014
Clinical Laboratory Review of the Prevalence and Clinical Presentation of Patients with Biallelic Mismatch Repair Mutations
Kim Grace, Kelsey Moyes, Christopher Arnell, Michelle Landon, Richard J. Wenstrup
03-28-2014
Assessment of Laboratory-Based Quality Control Processes to Ensure Appropriate Utilization of Genetic Testing for Hereditary Cancer Risk
Serenedy Smith, Eric Rosenthal, Jeanie Schaller, Christopher Arnell, Kelsey Moyes, Susan Manley
03-27-2014
Evaluating the Personal and Family History Overlap Between Hereditary Cancer Syndromes
Jennifer Saam, Christopher Arnell, Kelsey Moyes, Kirstin M. Roundy, Ingrid Marino, Richard J. Wenstrup
03-14-2014
Patients with lynch syndrome gene mutations exhibit overlapping phenotypes with AFAP and FAP
Erin Heckaman, Kelsey Moyes, Christopher Arnell, Michelle Landon, Richard J. Wenstrup
01-18-2014
A Clinical History Weighting Algorithm Accurately Classifies BRCA1 and BRCA2 Variants
Karla R. Bowles, Brian Morris, Elisha Hughes, Julie M. Eggington, Lisa Esterling, Brandon S. Robinson, Aric van Kan, Benjamin B. Roa, Eric Rosenthal, Alexander Gutin, Richard Wenstrup, Dmitry Pruss
10-25-2013
Clinical Presentation of Patients With Mutations in the APC Regions Associated With AFAP
Praveen Kaushik, Kelsey Moyes, Christopher Arnell, Michelle Landon, Rick Wenstrup
10-25-2013
Development of a Next Generation Sequencing Panel to Assess Hereditary Cancer Risk that Includes Clinical Diagnostic Analysis of the BRCA1 and BRCA2 Genes
Benjamin Roa, Karla Bowles, Satish Bhatnagar, Natalia Gutin, Adam Murray, Bryan Wardell, Mark Bastian, Jeffrey Mitchell, Jian Chen, Thanh Tran, Deborah Williams, Jenny Potter, Srikanth Jammulapati, Michael Perry, Brian Morris, Kirsten Timms
10-24-2013
Prevalence of Lynch Syndrome Mutations in Patients With Colorectal and Endometrial Cancer Based on Decade of Diagnosis
Willonie Mendonca, Brian Strike, Michelle Landon, Kelsey Moyes, Christopher Arnell, Jennifer Saam, Brian L. Abbott
10-11-2013
Overlap Between Lynch Syndrome and Hereditary Breast and Ovarian Cancer Syndrome Among Family Histories in Patients Tested for Hereditary Cancer Syndromes
Jennifer Saam, Chris Arnell, Kelsey Moyes, Ingrid Marino, Rick Wenstrup
10-07-2013
Mutation Breakdown and Variant Rates in Lynch Syndrome
Kim Grace, Jeanie Schaller, Julie Eggington, Kelsey Moyes, Christopher Arnell
10-07-2013
Prevalence of Lynch Syndrome and HBOC Among Patients with Primary Endometrial and Ovarian Cancers
Jessica N. Everett, Shanna L. Gustafson, Barbara A. Corey, Devki S. Saraiya, Elena M. Stoffel, Kelsey Moyes, Jennifer Saam, Brian Abbott, and Victoria M. Raymond
10-07-2013
MSI-High Histology is a Predictive Risk Factor for Lynch Syndrome
Brian Strike, Jennifer Saam, Michelle Landon, Kelsey Moyes, Brian Abbott
10-07-2013
Early Onset Colorectal and Endometrial Cancer Correlates With High Lynch Syndrome Mutation Rate But Mutation Rate Remains High Even in Patients Diagnosed in Their 50s and 60s
Brian Strike, Michelle Landon, Kelsey Moyes, Christopher Arnell, Jennifer Saam, Brian Abbott
05-19-2013
Segregation Analysis Offers a Mechanism for Variant Reclassification in a Small Subset of Cases but is Especially Powerful in Classifying Deleterious Mutations
Julie Eggington, Jennifer Saam, Karla Bowles, Kelsey Moyes, Susan Manley, Lisa Esterling, Scott Sizemore, Christopher Arnell, Brandon Robinson, Eric Rosenthal, Jeremiah Bennett, Mark McKellar, Benjamin Roa and Richard Wenstrup
03-22-2013
Detection of Large Rearrangements in Hereditary Colorectal Cancer Using Microarray CGH
Debora Mancini-DiNardo, Thaddeus Judkins, Nick Woolstenhulme, Collin Burton, Sonia Chen, Jeremy Schoenberger, Matthew Ryder, Adam Murray, Natalia Gutin, Jayson Holladay, Jonathan Craft, Jeffrey Trost, Kelsey Moyes, Benjamin Roa
03-22-2013
Founder Mutation Versus Full sequencing of MYH for Increasing Clinical Sensitivity
Sophia Ceulemans, Christopher Arnell, Lynn Anne Burbidge, Kelsey Moyes, Brian Abbott, Rajesh R. Kaldate, Michelle Landon
01-25-2013
Detection of Large Rearrangements in BRCA1 and BRCA2 by Microarray-CGH
Debora Mancini-DiNardo, Thaddeus Judkins, Nick Woolstenhulme, Collin Burton, Sonia Chen, Jeremy Schoenberger, Matthew Ryder, Adam Murray, Marie Balzotti, Natalia Gutin, Jayson Holladay, Jonathan Craft, Carrie Colvin, Jeffrey Trost, Lynn Anne Burbidge, Christopher Arnell, Kelsey Moyes, Eric Rosenthal, Benjamin Roa
11-01-2012
Mutation Distribution and VUS Rates Among the Five Genes Currently Analyzed in Lynch Syndrome Testing
Jennifer Saam, Julie Eggington, Karla Bowles, Amanda Bodell, Lynn Anne Burbidge, Dmitry Pruss, Lisa Esterling, Benoît Leclair, Saradha Rajamani, Jeffrey Trost, Jack Landon, Richard Wenstrup, Benjamin Roa
10-01-2012
Mutation Analysis of PALB2 in Higher Risk and Lower Risk Patients Negative for BRCA1 and BRCA2 Mutations
Shelly Cummings, Jennifer Saam, Jenny Peterson, Elisha Hughes, Rajesh Kaldate, Sonia Chen, Je rey Trost, Christopher Arnell, Benjamin B. Roa, Priscilla H. Fernandes
09-13-2012
Profiling Uptake of Single Site Testing (SST) for Familial Cancer (CA) Risk in an Administrative Genetic Testing Database
Michael J Hall, Katen C McCully, Karthik Devarajan, Rajesh R Kaldate, Mary B Daly
06-06-2012
Current Variant of Uncertain Significance Rates in BRCA1/2 and Lynch Syndrome Testing (MLH1, MSH2, MSH6, PMS2, EPCAM)
Julie Eggington, Lynn Anne Burbidge, Benjamin Roa, Dmitry Pruss, Karla Bowles, Eric Rosenthal, Lisa Esterling, Richard Wenstrup
03-01-2012
Representation of PMS2 Mutations in Patients Seeking Genetic Testing for Lynch Syndrome
Karla R. Bowles, Benoit Leclair, Saradha Rajamani, Jeffrey Trost, Jack Landon, Benjamin Roa
03-01-2012
Prognostic Value of a Cell Cycle Expression Profile Score Among Men with Conservatively Treated Localized Prostate Cancer
Jack Cuzick, Gabrielle Fisher, Dan Berney, David Mesher, Henrik Møller, Jerry Lanchbury, Alexander Gutin, Steven Stone
10-02-2010
Clinical Validation Publications
Clinical Utility Publications
Analytical Validity Publications
Supporting Publications
Other Publications
Presentations
Posters
Title
Author
Journal
Publication Date
Prediction of Distant Recurrence using EndoPredict among Women with ER+, HER2- Node-Positive and Node-Negative Breast Cancer Treated with Endocrine Therapy Only
Martin Filipits
Clinical Cancer Research
07-01-2019
The genomic expression test EndoPredict is a prognostic tool for identifying risk of local recurrence in postmenopausal endocrine receptor-positive, her2neu-negative breast cancer patients randomised within the prospective ABCSG 8 trial
Fitzal et al
Br J Cancer
03-24-2015
The EndoPredict score provides prognostic information on late distant metastases in ER+/HER2− breast cancer patients.
Dubsky et al.
British Journal of Cancer
10-24-2013
Clinical validation of the EndoPredict test in node-positive chemotherapy-treated ER+/HER2- breast cancer patients: results from the GEICAM/9906 trial
Martin et al
Breast Cancer Res
07-31-2013
EndoPredict predicts for the response to neoadjuvant chemotherapy in ER-positive, HER2-negative breast cancer
Bertucci et al
Cancer Letters
03-07-2013
EndoPredict improves the prognostic classification derived from common clinical guidelines in ER-positive, HER2-negative early breast cancer
Dubsky et al
Ann Oncol
10-03-2012
A New Molecular Predictor of Distant Recurrence in ER-Positive, HER2-Negative Breast Cancer Adds Independent Information to Conventional Clinical Risk Factors
Martin Filipits, Margaretha Rudas, Raimund Jakesz, Peter Dubsky, Florian Fitzal, Christian F. Singer, Otto Dietze, Richard Greil, Andrea Jelen, Paul Sevelda, Christa Freibauer, Volkmar Müller, Fritz Jänicke, Marcus Schmidt, Heinz Kölbl, Achim Rody, Manfred Kaufmann, Werner Schroth, Hiltrud Brauch, Matthias Schwab, Peter Fritz, Karsten E. Weber, Inke S. Feder, Guido Hennig, Ralf Kronenwett, Mathias Gehrmann, and Michael Gnant
Clinical Cancer Research
09-01-2011
Title
Author
Journal
Publication Date
Prediction of Chemotherapy benefit by EndoPredict in Patients with Estrogen Receptor-Positive, HER2-Negative Breast Cancer who Received Adjuvant Endocrine Therapy plus Chemotherapy or Endocrine Therapy Alone
Ivana Sestak/Miguel Martin
Breast Cancer Research and Treatment
04-30-2019
Decision impact and feasibility of different ASCO-recommended biomarkers in early breast cancer: Prospective comparison of molecular marker EndoPredict and protein marker uPA/PAI-1
Johannes Ettl, Evelyn Klein, Alexander Hapfelmeier, Kirsten Grosse Lackmann, Stefan Paepke, Christoph Petry, Katja Specht, Laura Wolff, Heinz Höfler, Marion Kiechle
PLOS One
09-06-2017
The EndoPredict Gene-Expression Assay in Clinical Practice – Performance and Impact on Clinical Decisions
Müller et al
PLoS ONE
06-27-2013
Title
Author
Journal
Publication Date
Risk Assessment after Neoadjuvant Chemotherapy in Luminal Breast Cancer Using a Clinicomolecular Predictor
Sibylle Loibl
Clinical Cancer Research
07-15-2018
Preanalytical variables and performance of diagnostic RNA-based gene expression analysis in breast cancer
Poremba et al
Virchows Arch
09-14-2014
Decentral gene expression analysis: analytical validation of the Endopredict genomic multianalyte breast cancer prognosis test
Kronenwett et al
10-05-2012
Decentral gene expression analysis for ER+/Her2− breast cancer: results of a proficiency testing program for the EndoPredict assay
Carsten Denkert, Ralf Kronenwett, Werner Schlake, Kerstin Bohmann, Roland Penzel, Karsten E. Weber, Heinz Höfler, Ulrich Lehmann, Peter Schirmacher, Katja Specht, Margaretha Rudas, Hans-Heinrich Kreipe, Peter Schraml, Gudrun Schlake, Zsuzsanna Bago-Horvath, Frank Tiecke, Zsuzsanna Varga, Holger Moch, Marcus Schmidt, Judith Prinzler, Dontscho Kerjaschki, Bruno Valentin Sinn, Berit Maria Müller, Martin Filipits, Christoph Petry, Manfred Dietel
Virchows Archiv
02-28-2012
Comparison of the RNA-based EndoPredict multigene test between core biopsies and corresponding surgical breast cancer sections
Berit Maria Müller, Jan C Brase, Franziska Haufe, Karsten E Weber, Jan Budzies, Christoph Petry, Judith Prinzler, Ralf Kronenwett, Manfred Dietel, Carsten Denkert
Journal of Clinical Pathology
02-28-2012
Quantitative determination of estrogen receptor, progesterone receptor, and HER2 mRNA in formalin-fixed paraffin-embedded tissue–a new option for predictive biomarker assessment in breast cancer
Berit Müller, Ralf Kronenwett, Guido Hennig, Heike Euting, Karsten Weber, Kerstin Bohmann, Wilko Weichert, Gabriela Altmann, Claudia Roth, Klaus-Jürgen Winzer, Glen Kristiansen, Christoph Petry, Manfred Dietel, Carsten Denkert
Diagn Mol Pathol. 2011;20:1-10
03-01-2011
Title
Author
Journal
Publication Date
Comparison of the Performance of 6 Prognostic Signatures for Estrogen Receptor - Positive Breast Cancer: A Secondary Analysis of a Randomized Clinical Trial
Ivana Sestak, Richard Buus, Jack Cuzick, Peter Dubsky, Ralf Kronenwett, Carsten Denkert, Sean Ferree, Dennis Sgroi, Catherine Schnabel, Frederick L. Baehner, Elizabeth Mallon, Mitch Dowsett
JAMA Oncology
02-15-2018
Comparison of risk classification between EndoPredict and MammaPrint in ER-positive/HER2-negative primary invasive breast cancer
Peláez-García et al
PLoS One
09-08-2017
From High-Throuput Microarray-Based Screening to Clinical Application: The Development of a Second Generation Multigen Test for Breast Cancer Prognosis
Brase et al
MDPI
08-29-2013
Comparison of EndoPredict and Oncotype DX test results in hormone receptor positive invasive breast cancer
Z Varga et al
PLoS One
03-07-2013
Title
Author
Journal
Publication Date
Evaluation of the 12-Gene Molecular Score and the 21-Gene Recurrence Score as Predictors of Response to Neo-adjuvant Chemotherapy in Estrogen Receptor-Positive, HER2-Negative Breast Cancer
Hatem Soliman 1, Susanne Wagner 2, Darl D Flake 2nd 2, Mark Robson 3, Lee Schwartzberg 4, Priyanka Sharma 5, Anthony Magliocco 1, Ralf Kronenwett 6, Johnathan M Lancaster 2, Jerry S Lanchbury 2, Alexander Gutin 2, William Gradishar 7
01-06-2020
Breast Cancer Prognostic Tests: Helping Patients Understand Testing Results and Their Implications
Lisa Miller 1, Edith C Smith 1
10-01-2019
Prediction of Distant Recurrence Using EndoPredict Among Women with ER(+), HER2(-) Node-Positive and Node-Negative Breast Cancer Treated with Endocrine Therapy Only
Martin Filipits 1, Peter Dubsky 2, Margaretha Rudas 3, Richard Greil 4, Marija Balic 5, Zsuzsanna Bago-Horvath 6, Christian F Singer 7, Dominik Hlauschek 8, Krystal Brown 9, Ryan Bernhisel 9, Ralf Kronenwett 10, Johnathan M Lancaster 9, Florian Fitzal 11, Michael Gnant 11
07-01-2019
Multi-gene assays: effect on chemotherapy use, toxicity and cost in estrogen receptor-positive early stage breast cancer
Lou Hochheiser 1, John Hornberger 2, Michelle Turner 2, Gary H Lyman 3
01-21-2019
Comparison of the Performance of 6 Prognostic Signatures for Estrogen Receptor-Positive Breast Cancer: A Secondary Analysis of a Randomized Clinical Trial
Ivana Sestak 1, Richard Buus 2 3, Jack Cuzick 1, Peter Dubsky 4 5, Ralf Kronenwett 6, Carsten Denkert 7, Sean Ferree 8, Dennis Sgroi 9, Catherine Schnabel 10, Frederick L Baehner 11, Elizabeth Mallon 12, Mitch Dowsett 2 3
04-01-2018
Clinical relevance and concordance of HER2 status in local and central testing-an analysis of 1581 HER2-positive breast carcinomas over 12 years
Berit M Pfitzner 1, Bianca Lederer 2, Judith Lindner 1 3 4, Christine Solbach 5, Knut Engels 6, Mahdi Rezai 7, Karel Dohnal 8, Hans Tesch 9, Martin L Hansmann 10, Christoph Salat 11, Michaela Beer 12, Andreas Schneeweiss 13, Peter Sinn 14, Agnes Bankfalvi 15, Silvia Darb-Esfahani 1 16, Gunter von Minckwitz 2 5, Bruno V Sinn 1, Ralf Kronenwett 17, Karsten Weber 2, Carsten Denkert 1 3, Sibylle Loibl 2 18
12-22-2017
Analytical validation of a 12-gene molecular test for the prediction of distant recurrence in breast cancer
M Bryan Warf 1 1, Saradha Rajamani 2 2, Kristin Krappmann 3 3, Jennifer Doedt 3 3, Jared Cassiano 1 1, Krystal Brown 2 2, Julia E Reid 2 2, Ralf Kronenwett 3 3, Benjamin B Roa 1 1
06-05-2017
Prognostic ability of EndoPredict compared to research-based versions of the PAM50 risk of recurrence (ROR) scores in node-positive, estrogen receptor-positive, and HER2-negative breast cancer. A GEICAM/9906 sub-study
Miguel Martin 1, Jan C Brase 2, Amparo Ruiz 3, Aleix Prat 4, Ralf Kronenwett 2, Lourdes Calvo 5, Christoph Petry 2, Philip S Bernard 6, Manuel Ruiz-Borrego 7, Karsten E Weber 2, César A Rodriguez 8, Isabel M Alvarez 9, Miguel A Segui 10, Charles M Perou 11 12 13, Maribel Casas 14, Eva Carrasco 14, Rosalía Caballero 14, Alvaro Rodriguez-Lescure 15
02-24-2016
Prognostic Significance of VEGFC and VEGFR1 mRNA Expression According to HER2 Status in Breast Cancer: A Study of Primary Tumors from Patients with High-risk Early Breast Cancer Participating in a Randomized Hellenic Cooperative Oncology Group Trial
Helena Linardou 1, Konstantine T Kalogeras 2, Ralf Kronenwett 3, Zoi Alexopoulou 4, Ralph M Wirtz 5, Flora Zagouri 6, Chrisoula D Scopa 7, Helen Gogas 8, Kalliopi Petraki 9, Christos Christodoulou 10, Kitty Pavlakis 11, Angelos K Koutras 12, Epaminondas Samantas 13, Helen Patsea 14, Dimitrios Pectasides 15, Dimitrios Bafaloukos 16, George Fountzilas 17
07-01-2015
Tumor-infiltrating lymphocytes and response to neoadjuvant chemotherapy with or without carboplatin in human epidermal growth factor receptor 2-positive and triple-negative primary breast cancers
Carsten Denkert 1, Gunter von Minckwitz 2, Jan C Brase 2, Bruno V Sinn 2, Stephan Gade 2, Ralf Kronenwett 2, Berit M Pfitzner 2, Christoph Salat 2, Sherene Loi 2, Wolfgang D Schmitt 2, Christian Schem 2, Karin Fisch 2, Silvia Darb-Esfahani 2, Keyur Mehta 2, Christos Sotiriou 2, Stephan Wienert 2, Peter Klare 2, Fabrice André 2, Frederick Klauschen 2, Jens-Uwe Blohmer 2, Kristin Krappmann 2, Marcus Schmidt 2, Hans Tesch 2, Sherko Kümmel 2, Peter Sinn 2, Christian Jackisch 2, Manfred Dietel 2, T
12-22-2014
From High-Throughput Microarray-Based Screening to Clinical Application: The Development of a Second Generation Multigene Test for Breast Cancer Prognosis
https://pubmed.ncbi.nlm.nih.gov/?term=Brase+JC&cauthor_id=27605191
12-22-2014
Title
Author
Conference
Publication Date
A UCBG RANDOMIZED, DOUBLE BLIND, PHASE III INTERNATIONAL TRIAL EVALUATING THE ADDITION OF EVEROLIMUS TO ADJUVANT HORMONE THERAPY IN WOMEN WITH HIGH RISK HR+ AND HER2- PRIMARY BREAST CANCER
Jérôme Lemonnier
02-19-2021
Title
Author
Conference
Publication Date
Clinical Validation of EndoPredict in Pre-Menopausal Women with Estrogen Receptor-Positive (ER+), Human Epidermal Growth Factor Receptor 2-Negative (HER2-) Primary Breast Cancer
Anastasia Constantinidou
06-04-2021
Comparison of risk assessment in primary ER+, HER2- Breast Cancer in a real-world data set: classical pathological parameters vs. 12-gene molecular assay (EndoPredict)
Paul Jank
12-08-2020
Prediction of Distant Recurrence Using EndoPredict Among Women with ER-positive, HER2-negative Breast Cancer with a Maximum Follow-up of 16 Years
Martin Filipits
12-07-2018
Prediction of Distant Recurrence by EndoPredict in Patients with Estrogen Receptor-Positive, HER2-Negative Breast Cancer who Received Adjuvant Endocrine Therapy plus Chemotherapy (ET+C) or Endocrine Therapy Alone (ET)
Ivana Sestak
12-06-2018
RESCUE: REACHING FOR EVIDENCE-BASED CHEMOTHERAPY USE IN ENDOCRINE SENSITIVE BREAST CANCER, A prospective health care study on risk assessment by the clinicomolecular test EndoPredict® and long-term patient outcome in early luminal breast cancer
Johannes Ettl
12-05-2018
In Silico Evaluation of the 12-Gene Molecular Score (EndoPredict) and the Recurrence Score (Oncotype DX) as Predictors of Response to Neo-adjuvant Chemotherapy in Estrogen Receptor Positive, HER2 Negative Breast Cancer
Hatem Soliman, MD
06-02-2018
Predicting Expected Absolute Chemotherapy Treatment Benefit in Women with Early-Stage Breast Cancer using a 12-Gene Expression Assay
William Gradishar, MD
06-02-2018
UCBG 2-14: A prospective multicenter non-randomized trial evaluating the effect of EndoPredict® (EPclin®) clinicogenomic test on treatment decision making among patients with intermediate clinical risk
F Penault-Llorca, F Kwiatkovski, J Grenier, C Levy, M Leheurteur, L Uwer, O Derbel, A Le Rol, JP Jacquin, C Jouannaud, N Quenel-Tueux, V Girre, C Foa, E Guardiola, A Lortholary, S Catala, J Lemonnier, S Delaloge
12-08-2016
Other Publications
Presentations
Posters
Title
Author
Journal
Publication Date
Practical Cancer Genetics and Genomics in Women's Health
Susan Modesitt 1, Holly J Pederson 2 3, Royce T Adkins 4
12-06-2019
Fragile X syndrome carrier screening accompanied by genetic consultation has clinical utility in populations beyond those recommended by guidelines
Katherine Johansen Taber 1, Jeraldine Lim-Harashima 2, Harris Naemi 2, Jim Goldberg 1
11-06-2019
Detecting clinically actionable variants in the 3' exons of PMS2 via a reflex workflow based on equivalent hybrid capture of the gene and its pseudogene
Genevieve M Gould 1, Peter V Grauman 1, Mark R Theilmann 1, Lindsay Spurka 1, Irving E Wang 1, Laura M Melroy 1, Robert G Chin 1, Dustin H Hite 1, Clement S Chu 1, Jared R Maguire 1, Gregory J Hogan 1, Dale Muzzey 2
09-28-2019
Screening for Tay-Sachs disease carriers by full-exon sequencing with novel variant interpretation outperforms enzyme testing in a pan-ethnic cohort
Alana C. Cecchi Elizabeth S. Vengoechea Kristjan E. Kaseniit Melanie W. Hardy Laura A. Kiger Nikita Mehta Imran S. Haque Krista Moyer Patricia Z. Page Dale Muzzey Karen A. Grinzaid
Molecular Genetics & Genomic Medicine
07-10-2019
Inter-lab concordance of variant classifications establishes clinical validity of expanded carrier screening
Kristjan E. Kaseniit Elizabeth Collins Christine Lo Krista Moyer Rebecca Mar‐Heyming Hyunseok P. Kang Dale Muzzey
Clinical Genetics
06-06-2019
Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel
Jun Shen 1 2 3, Andrea M Oza 4 5, Ignacio Del Castillo 6 7, Hatice Duzkale 8, Tatsuo Matsunaga 9, Arti Pandya 10, Hyunseok P Kang 11, Rebecca Mar-Heyming 11, Saurav Guha 11 12, Krista Moyer 11, Christine Lo 11, Margaret Kenna 13 5, John J Alexander 14 15, Yan Zhang 16, Yoel Hirsch 17, Minjie Luo 18 19, Ye Cao 20, Kwong Wai Choy 20, Yen-Fu Cheng 21 22 23, Karen B Avraham 24, Xinhua Hu 25, Gema Garrido 6 7, Miguel A Moreno-Pelayo 6 7, John Greinwald 8, Kejian Zhang 8, Yukun Zeng 16, Zippora Browns
06-04-2019
Sequencing as a first-line methodology for cystic fibrosis carrier screening
Kyle A. Beauchamp PhD, Katherine A. Johansen Taber PhD, Peter V. Grauman BS, Lindsay Spurka BA, Jeraldine Lim-Harashima MS CGC, Ashley Svenson MS CGC, James D. Goldberg MD & Dale Muzzey PhD
Nature: Genetics in Medicine
05-15-2019
Prenatal genetic counselors' practices and confidence level when counseling on cancer risk identified on expanded carrier screening
Jennifer Thompson 1, Kristen Vogel Postula 2, Kenny Wong 3, Sara Spencer 4
03-19-2019
A data-driven evaluation of the size and content of expanded carrier screening panels
Rotem Ben-Shachar PhD, Ashley Svenson MS CGC, James D. Goldberg MD & Dale Muzzey PhD
Nature: Genetics in Medicine
02-28-2019
Strategies for Improving Access to Hereditary Cancer Testing: Recommendations from Stakeholders
Kaylene Ready MS, CGC, Katherine A. Johansen Taber PhD, Natasha Bonhomme BA & J. Leonard Lichtenfeld MD
Nature: Genetics in Medicine
02-26-2019
Clinical impact and cost-effectiveness of a 176-condition expanded carrier screen
Kyle A. Beauchamp PhD, Katherine A. Johansen Taber PhD & Dale Muzzey PhD
Nature: Genetics in Medicine
02-14-2019
Software-Assisted Manual Review of Clinical Next-Generation Sequencing Data: An Alternative to Routine Sanger Sequencing Confirmation with Equivalent Results in >15,000 Germline DNA Screens
Dale Muzzey 1, Shera Kash 2, Jillian I Johnson 2, Laura M Melroy 2, Piotr Kaleta 2, Kelly A Pierce 2, Kaylene Ready 2, Hyunseok P Kang 2, Kevin R Haas 2
12-04-2018
Gene-specific criteria for PTEN variant curation: Recommendations from the ClinGen PTEN Expert Panel
Jessica L Mester 1, Rajarshi Ghosh 2, Tina Pesaran 3, Robert Huether 4, Rachid Karam 3, Kathleen S Hruska 1, Helio A Costa 5, Katherine Lachlan 6 7, Joanne Ngeow 8, Jill Barnholtz-Sloan 9 10, Kaitlin Sesock 11, Felicia Hernandez 3, Liying Zhang 12, Laura Milko 13, Sharon E Plon 2, Madhuri Hegde 14 15, Charis Eng 9 10 16
11-03-2018
Clinical utility of expanded carrier screening: results-guided actionability and outcomes
Katherine A. Johansen Taber, PhD , Kyle A. Beauchamp, PhD , Gabriel A. Lazarin, MS , Dale Muzzey, PhD , Aishwarya Arjunan, MS, MPH and James D. Goldberg, MD
Genetics in Medicine
10-11-2018
Detecting clinically actionable variants in the 3′ exons of PMS2 via a reflex workflow based on equivalent hybrid capture of the gene and its pseudogene
Genevieve M Gould, Peter V Grauman, Mark R Theilmann, Lindsay Spurka, Irving E Wang, Laura M Melroy, Robert G Chin, Dustin H Hite, Clement S Chu, Jared R Maguire, Gregory J Hogan & Dale Muzzey
BMC Medical Genetics
09-29-2018
Validation of an Expanded Carrier Screen that Optimizes Sensitivity via Full-Exon Sequencing and Panel-wide Copy Number Variant Identification
Gregory J. Hogan, Valentina S. Vysotskaia, Kyle A. Beauchamp, Stefanie Seisenberger, Peter V. Grauman, Kevin R. Haas, Sun Hae Hong, Diana Jeon, Shera Kash, Henry H. Lai, Laura M. Melroy, Mark R. Theilmann, Clement S. Chu, Kevin Iori, Jared R. Maguire, Eric A. Evans, Imran S. Haque, Rebecca Mar-Heyming, Hyunseok P. Kang, Dale Muzzey
Clinical Chemistry
05-01-2018
Inherited Cancer in the Age of Next-Generation Sequencing
Kristin S. Price, MS, CGC, Ashley Svenson, MS, CGC, Elisabeth King, RN, FNP-C, AGN-BC, AOCNP, CBCN, Kaylene Ready, MS, CGC, Gabriel A. Lazarin, MS, CGC
Sage Journals: Biological Research For Nursing
01-11-2018
Validation of a digital identification tool for individuals at risk for hereditary cancer syndromes
Leslie Bucheit, Katherine Johansen Taber & Kaylene Ready
BMC: Hereditary Cancer in Clinical Practice
01-11-2018
Clinical Utility of Expanded Carrier Screening: Reproductive Behaviors of At‐Risk Couples
Caroline E. Ghiossi James D. Goldberg Imran S. Haque Gabriel A. Lazarin Kenny K. Wong
Journal of Genetic Counseling
09-27-2017
Clinical Utility of Expanded Carrier Screening: Reproductive Behaviors of At-Risk Couples
Caroline E Ghiossi 1, James D Goldberg 2, Imran S Haque 2, Gabriel A Lazarin 2, Kenny K Wong 2
09-27-2017
Systematic design and comparison of expanded carrier screening panels
Kyle A Beauchamp PhD, Dale Muzzey PhD, Kenny K Wong MS, CGC, Gregory J Hogan PhD, Kambiz Karimi PhD, Sophie I Candille PhD, Nikita Mehta MS, CGC, Rebecca Mar-Heyming PhD, K Eerik Kaseniit MEng, H Peter Kang MD, Eric A Evans PhD, James D Goldberg MD, Gabriel A Lazarin MS, CGC & Imran S Haque PhD
Nature: Genetics in Medicine
06-22-2017
Smith-Lemli-Opitz syndrome carrier frequency and estimates of in utero mortality rates
Gabriel A Lazarin 1, Imran S Haque 1, Eric A Evans 1, James D Goldberg 1
03-09-2017
Development and validation of a 36-gene sequencing assay for hereditary cancer risk assessment
Valentina S. Vysotskaia, Gregory J. Hogan, Genevieve M. Gould, Xin Wang, Alex D. Robertson, Kevin R. Haas, Mark R. Theilmann, Lindsay Spurka, Peter V. Grauman, Henry H. Lai, Diana Jeon, Genevieve Haliburton, Matt Leggett, Clement S. Chu, Kevin Iori, Jared R. Maguire, Kaylene Ready, Eric A. Evans, Hyunseok P. Kang, Imran S. Haque
PeerJ: Bioinformatics and Genomics
02-23-2017
Smith–Lemli–Opitz syndrome carrier frequency and estimates of in utero mortality rates†
Gabriel A. Lazarin Imran S. Haque Eric A. Evans James D. Goldberg
Obstetrics & Gynaecology: Prenatal Diagnosis
02-06-2017
Prenatal Carrier Screening
Imran S Haque 1, Gabriel A Lazarin 1, Ronald J Wapner 2
12-27-2016
Tay-Sachs Carrier Screening by Enzyme and Molecular Analyses in the New York City Minority Population
Nikita Mehta, Gabriel A. Lazarin, Erica Spiegel, Kathleen Berentsen, Kelly Brennan, Jessica Giordano, Imran S. Haque, and Ronald Wapner
Genetic Testing and Molecular Biomarkers
09-01-2016
Modeled Fetal Risk of Genetic Diseases Identified by Expanded Carrier Screening
Imran S. Haque, PhD; Gabriel A. Lazarin, MS; H. Peter Kang, MD; et al
JAMA Network
08-16-2016
Re: Carrier Screening is a Deficient Strategy for Determining Sperm Donor Eligibility and Reducing Risk of Disease in Recipient Children (From: Silver AJ, Larson JL, Silver MJ, et al. Genet Test Mol Biomarkers 2016;20:276–284)
Kenny K. Wong, James D. Goldberg, Eric A. Evans, Hyunseok Peter Kang, and Imran S. Haque
Mary Ann Liebert, Inc. publishers: Genetic Testing and Molecular Biomarkers
08-01-2016
Design and validation of a next generation sequencing assay for hereditary BRCA1 and BRCA2 mutation testing
Hyunseok P. Kang, Jared R. Maguire, Clement S. Chu, Imran S. Haque, Henry Lai, Rebecca Mar-Heyming, Kaylene Ready, Valentina S. Vysotskaia, Eric A. Evans
PeerJ: Bioinformatics and Genomics
06-28-2016
Carrier screening in the era of expanding genetic technology
Aishwarya Arjunan MS, MPH, Karen Litwack LCSW, Nick Collins MS & Joel Charrow MD
Genetics in Medicine
04-07-2016
Current controversies in traditional and expanded carrier screening
Lazarin, Gabriel A.; Goldberg, James D.
Current Opinion in Obstetrics and Gynecology
04-01-2016
Genetic Counselors' Perspectives and Practices Regarding Expanded Carrier Screening after Initial Clinical Availability
Lazarin GA, Detweiler S, Nazareth SB, Ashkinadze E.
Journal of Genetic Counseling
04-01-2016
Expanded carrier screening: A review of early implementation and literature
Gabriel A.LazarinMS & Imran S.HaquePhD
Seminars in Perinatology
02-01-2016
Changing trends in carrier screening for genetic disease in the United States
Shivani B. Nazareth, Gabriel A. Lazarin and James D. Goldberg
Prenatal Diagnosis
10-01-2015
Understanding the Basics of NGS: From Mechanism to Variant Calling
Dale Muzzey • Eric A. Evans • Caroline Lieber
Current Genetic Medicine Reports
09-04-2015
Systematic Classification of Disease Severity for Evaluation of Expanded Carrier Screening Panels
Gabriel A. Lazarin, Felicia Hawthorne, Nicholas S. Collins, Elizabeth A. Platt, Eric A. Evans, Imran S. Haque
PloS ONE
12-10-2014
Detection of Carriers in the Ashkenazi Jewish Population: An Objective Comparison of High-Throughput Genotyping Versus Gene-by-Gene Testing
Susan Klugman, Nicole Schreiber-Agus, Shivani Nazareth, and Eric A. Evans
Genetic Testing and Molecular Biomarkers
09-20-2013
Response to Stoll and Resta
Gabriel A. Lazarin MS, Imran S. Haque PhD, Shivani Nazareth MS & Eric A. Evans PhD
Genetics in Medicine
04-03-2013
An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals
Gabriel A. Lazarin MS, Imran S. Haque PhD, Shivani Nazareth MS, Kevin Iori BS, A. Scott Patterson MA, Jessica L. Jacobson MD, John R. Marshall MD, William K. Seltzer PhD, FACMG, Pasquale Patrizio MD, Eric A. Evans PhD & Balaji S. Srinivasan PhD
Genetics in Medicine
09-13-2012
Knowledge and attitudes regarding expanded genetic carrier screening among women’s healthcare providers
Ready K, Haque IS, Srinivasan BS, Marshall JR.
Fertility and Sterility
02-01-2012
Knowledge and attitudes regarding expanded genetic carrier screening among women's healthcare providers
Kaylene Ready 1, Imran S Haque, Balaji S Srinivasan, John R Marshall
12-02-2011
Serendipitous diagnosis of mild recessive multiple epiphyseal dysplasia through parental‐targeted screening test
Yves Lacassie, John M. Storment, Gabriel A. Lazarin
American Journal of Medical Genetics Part A
11-03-2011
A universal carrier test for the long tail of Mendelian disease
Srinivasan BS, Evans EA, Flannick JF, Patterson AS, Chang CC, Pham T, Young S, Kaushal A, Lee J, Jacobson JL, Patrizio P.
Reproductive Biomedicine Online
10-01-2010
Title
Author
Conference
Publication Date
Improving Inequities in Prenatal Screening: Time to Modernize Guidelines
Edie Smith & Summer Pierson
05-23-2021
Contribution of Large Genomic Deletions to Recessive Mendelian Disease Carrier Burden within a Healthy Population
Sam Cox
04-16-2021
Addition of novel SNV and Indel identification via next-generation sequencing improves alpha thalassemia detection rate
Genevieve Gould
10-27-2020
Impact Analysis of PVS1 Criteria on Canonical Splice Variant Classifications
Katrina Tanaka
10-27-2020
Consistency of carrier screening guidelines across seven populations and 408,000 individuals
Aishwarya Arjunan
06-06-2020
Assessing the Consistency of Carrier Screening Guidelines
Summer Pierson
05-31-2020
Clinical Validity of Expanded Carrier Screening: Evaluating the Gene-Disease Relationship in more than 200 Conditions
03-18-2020
Fragile X carrier screening accompanied by genetic consultation has clinical utility in populations beyond those recommended by guidelines
Katie Johansen Taber
11-07-2019
Title
Author
Conference
Publication Date
Clinical Experience of an Alpha Thalassemia Carrier Screening Assay with an Increased Detection Rate Due to Novel Variant Calling
Genevieve Gould
10-18-2021
Evaluating the Efficacy of Three Carrier Screening Workflows Designed to Identify At-Risk Carrier Couples
Aishwarya Arjunan
04-30-2021
Expanded Carrier Screening: Adherence to Panel Criteria and Efficiency of At-Risk Couple Detection
Katie Johansen Taber
04-30-2021
The relationship between variant type and phenotype among diseases screened by the Foresight® Expanded Carrier Screen
Kambiz Karimi
11-17-2020
An evidence-based evaluation of guidelines criteria for condition inclusion on ECS panels: identifying a guidelines-compliant panel
Katie Johansen Taber
11-17-2020
Reducing Results Delivery Time for Couples Undergoing Carrier Screening: A "Tandem-Reflex” Strategy
Aishwarya Arjunan
10-30-2020
Application of a Severity Framework to 176 Genes on an Expanded Carrier Screening Panel
Aishwarya Arjunan
10-30-2020
An evidence-based evaluation of guidelines criteria for condition inclusion on ECS panels: identifying a guidelines-compliant panel
Katie Johansen Taber
10-19-2020
Detecting Novel Variants in Alpha Thalassemia Carriers
Genevieve Gould
03-20-2020
Application of a Severity Framework to 176 Conditions on an Expanded Carrier Screening Panel
Aishwarya Arjunan
11-07-2019
Minimizing Results Delivery Time for Couples Undergoing Carrier Screening by Using a Tandem-Submission-with-Partner-Reflex (“Tandem Reflex”) Strategy
Aishwarya Arjunan
11-07-2019
Clinical utility of hereditary cancer panel testing: impact of PALB2, ATM, CHEK2, NBN, BRIP1, RAD51C, and RAD51D results on patient management and adherence to provider recommendations
Valentina Vysotskaia
11-05-2019
Assessing the Consistency of Carrier Screening Guidelines Across Seven Populations and 265,000 Individuals
Jamie Kostialik
10-21-2019
A deep learning model for accurate variant calling congenital adrenal hyperplasia
Sun Hong
10-16-2019
Accurate and high-resolution copy number variant detection in clinical germline screening
Jiani Li
10-16-2019
Leveraging large datasets accumulated through population carrier screening to inform variant classification
David Tran
10-16-2019
Fragile X carrier screening accompanied by genetic consultation has clinical utility in populations beyond those recommended by guidelines
Aishwarya Arjunan
10-15-2019
A “Tandem-Reflex” Strategy Minimizes Results Delivery Time for Couples Undergoing Carrier Screening
Aishwarya Arjunan
10-15-2019
Other Publications
Presentations
Posters
Title
Author
Journal
Publication Date
Noninvasive prenatal screening for patients with high body mass index: Evaluating the impact of a customized whole genome sequencing workflow on sensitivity and residual risk
Dale Muzzey 1 2, James D Goldberg 1, Carrie Haverty 1
12-20-2019
Inaccuracies and shortcomings in "Adherence of cell-free DNA noninvasive prenatal screens to ACMG recommendations"
Katherine Johansen Taber 1, Carrie Haverty 2, Susan Hancock 2, James Goldberg 2
11-21-2019
Technology-Driven Noninvasive Prenatal Screening Results Disclosure and Management
Aishwarya Arjunan, Rotem Ben-Shachar, Jamie Kostialik, Katherine Johansen Taber, Gabriel A. Lazarin, Elizabeth Denne, Dale Muzzey, and Carrie Haverty
Mary Ann Liebert, Inc. Publishers
02-26-2019
Strategies to minimize false positives and interpret novel microdeletions based on maternal copy-number variants in 87,000 noninvasive prenatal screens
Kristjan Eerik Kaseniit, Gregory J Hogan, Kevin M D’Auria, Carrie Haverty & Dale Muzzey
BMC Medical Genetics
10-11-2018
Industry perspectives on prenatal genetic testing
Amy Swanson 1, James D Goldberg 2
07-26-2018
Detection of a case of Angelman syndrome caused by an imprinting error in 949 pregnancies analyzed for AS following IVF
John P Johnson 1, Jonathon Schoof 2, Linda Beischel 2 3, Corbin Schwancke 2, James Goldberg 4, Lauri Black 5, Lori Ross 6, Suchina Bhatt 7
04-13-2018
Noninvasive prenatal screening at low fetal fraction: comparing whole-genome sequencing and single-nucleotide polymorphism methods
Carlo G Artieri 1, Carrie Haverty 1, Eric A Evans 1, James D Goldberg 1, Imran S Haque 1 2, Yuval Yaron 3, Dale Muzzey 1
05-03-2017
Noninvasive prenatal screening at low fetal fraction: comparingwhole-genome sequencing and single-nucleotide polymorphismmethods
Carlo G. Artieri Carrie Haverty Eric A. Evans James D. Goldberg Imran S. Haque Yuval Yaron Dale Muzzey
Obstetrics & Gynaecology: Prenatal Diagnosis
03-20-2017
Group Testing Approach for Trinucleotide Repeat Expansion Disorder Screening
Kristjan Eerik Kaseniit, Mark R. Theilmann, Alexander Robertson, Eric A. Evans, Imran S. Haque
Clinical Chemistry
09-01-2016
Title
Author
Conference
Publication Date
A noninvasive prenatal screen with >4% fetal fraction in all samples: Clinical laboratory experience
Rotem Ben-Shachar
10-13-2021
Can Expanded Carrier Screening Shorten the Diagnostic Odyssey in those with Genetic Disease?
Maysen Mesaros
09-21-2021
Clinical Experience for Noninvasive Prenatal Screen in Twins
Susan Hancock
11-17-2020
The Association of Maternal HBB Pathogenic Variant Status and Fetal Fraction in Non-invasive Prenatal Screening
Manesha Putra
02-03-2020
Title
Author
Conference
Publication Date
A noninvasive prenatal screen with >99.9% of patients with fetal fraction ≥4%
Rotem Ben-Shachar
09-21-2021
A noninvasive prenatal screen with >4% fetal fraction in all samples
Rotem Ben-Shachar
04-30-2021
A noninvasive prenatal screen with >4% fetal fraction in all samples: Clinical laboratory experience
Rotem Ben-Shachar
04-30-2021
Fetal Fraction Amplification in Noninvasive Prenatal Screening: Impact on Fetal Sex Chromosome Analysis
Susan Hancock
04-13-2021
High-throughput fetal-fraction amplification increases analytical performance of noninvasive prenatal screening
Dale Muzzey
01-29-2021
High-throughput fetal-fraction amplification increases analytical performance of noninvasive prenatal screening
Dale Muzzey
11-19-2020
Detecting Novel SNVs and Indels in Alpha Thalassemia Carriers
Aishwarya Arjunan
11-17-2020
A novel Bayesian hierarchical model for analytically validating the detection of common and rare autosomal aneuploidies from noninvasive prenatal screening of 44,420 samples
Raul Torres
10-27-2020
Expanded Aneuploidy Analysis Reveals Trisomy 2: Evidence of Rare Aneuploidy via NIPS Provides Opportunity for Focused Care
Susan Hancock
03-20-2020
The Association of Maternal HBB Pathogenic Variant Status and Fetal Fraction in Non-Invasive Prenatal Screening
Dale Muzzey
03-19-2020
Expanded Aneuploidy Analysis Reveals Trisomy 2: Evidence of Rare Aneuploidy via NIPS Provides Opportunity for Focused Care
Susan Hancock
11-07-2019
Expanded Aneuploidy Analysis Reveals Trisomy 2: Evidence of Rare Aneuploidy via NIPS Provides Opportunity for Focused Care
Susan Hancock
11-07-2019
WGS-based NIPS Without a Fetal Fraction Threshold: What are the Clinical Outcomes of No-Calls?
Susan Hancock
11-05-2019
WGS-based NIPS Without a Fetal Fraction Threshold: What are the Clinical Outcomes of No-Calls?
Susan Hancock
11-05-2019
Other Publications
Presentations
Posters
Title
Author
Journal
Publication Date
The clinical utility of combinatorial pharmacogenomic testing for patients with depression: a meta-analysis
Lisa Brown 1, Oliver Vranjkovic 1, James Li 2, Kunbo Yu 2, Talal Al Habbab 1, Holly Johnson 1, Krystal Brown 3, Michael R Jablonski 1, Bryan Dechairo 3
06-21-2020
Combinatorial PharmacogenomicTesting Improves Outcomes for Older Adults With Depression
Brent P Forester 1, Sagar V Parikh 2, Sara Weisenbach 3, Olusola Ajilore 4, Ipsit Vahia 5, Anthony J Rothschild 6, Michael E Thase 7, Boadie W Dunlop 8, Charles DeBattista 9, Charles R Conway 10, Richard C Shelton 11, Matthew Macaluso 12, James Li 13, Paul Traxler 13, Jennifer Logan 14, Lisa Brown 13, Bryan Dechairo 14, John F Greden 2
05-19-2020
Combinatorial Pharmacogenomic Algorithm is Predictive of Citalopram and Escitalopram Metabolism in Patients with Major Depressive Disorder
Richard C Shelton 1, Sagar V Parikh 2, Rebecca A Law 3, Anthony J Rothschild 4, Michael E Thase 5, Boadie W Dunlop 6, Charles DeBattista 7, Charles R Conway 8, Brent P Forester 9, Matthew Macaluso 10, Daniel T Hain 3, Aime Lopez Aguilar 3, Krystal Brown 11, David J Lewis 3, Michael R Jablonski 3, John F Greden 2
05-17-2020
Cost-effectiveness of combinatorial pharmacogenomic testing for depression from the Canadian public payer perspective
Julie-Anne Tanner 1, Paige E Davies 1, Christopher C Overall 2, Daniel Grima 3, Julian Nam 4, Bryan M Dechairo 2
04-17-2020
Comparing sensitivity to change using the 6-item versus the 17-item Hamilton depression rating scale in the GUIDED randomized controlled trial
Boadie W Dunlop 1, Sagar V Parikh 2, Anthony J Rothschild 3, Michael E Thase 4, Charles DeBattista 5, Charles R Conway 6, Brent P Forester 7, Francis M Mondimore 8, Richard C Shelton 9, Matthew Macaluso 10, Jennifer Logan 11, Paul Traxler 12, James Li 12, Holly Johnson 12, John F Greden 2
12-27-2019
Economic Outcomes Following Combinatorial Pharmacogenomic Testing for Elderly Psychiatric Patients
Michael R Jablonski 1, Raymond Lorenz 1, James Li 1, Bryan M Dechairo 1
12-17-2019
Economic Burden of Depression and Associated Resource Use in Manitoba, Canada
Julie-Anne Tanner 1 2 3, Jennifer Hensel 4, Paige E Davies 3, Lisa C Brown 5, Bryan M Dechairo 6, Benoit H Mulsant 7
12-13-2019
Canadian Medication Cost Savings Associated with Combinatorial Pharmacogenomic Guidance for Psychiatric Medications
Julie-Anne Tanner 1 2, Lisa C Brown 3, Kunbo Yu 3, James Li 3, Bryan M Dechairo 4
12-09-2019
Impact of Pharmacogenomics on Clinical Outcomes for Patients Taking Medications With Gene-Drug Interactions in a Randomized Controlled Trial
Michael E Thase 1 2, Sagar V Parikh 3, Anthony J Rothschild 4, Boadie W Dunlop 5, Charles DeBattista 6, Charles R Conway 7, Brent P Forester 8, Francis M Mondimore 9, Richard C Shelton 10, Matthew Macaluso 11, James Li 12, Krystal Brown 13, Michael R Jablonski 12, John F Greden 3
10-31-2019
Clinical Utilization of Pharmacogenetics in Psychiatry - Perspectives of Pharmacists, Genetic Counselors, Implementation Science, Clinicians, and Industry
Lisa Brown 1, Seenae Eum 2, Susanne B Haga 3, Jeffrey R Strawn 4, Heather Zierhut 2
09-12-2019
Response to: Goldberg et al. and Severance et al. Letters to the Editor: The clinical significance of improving remission over standard of care - The reality of treatment resistant-based therapies
John F Greden 1, Sagar V Parikh 2, Anthony J Rothschild 3, Michael E Thase 4, Boadie W Dunlop 5, Charles DeBattista 6, Charles R Conway 7, Brent P Forester 8, Francis M Mondimore 9, Richard C Shelton 10, Matthew Macaluso 11, James Li 12, Krystal Brown 13, Alexa Gilbert 12, Lindsey Burns 12, Michael R Jablonski 12, Bryan Dechairo 14
04-27-2019
CYP2D6 haplotypes with enhancer single-nucleotide polymorphism rs5758550 and rs16947 (*2 allele): implications for CYP2D6 genotyping panels
Balmiki Ray 1, Eren Ozcagli 2, Wolfgang Sadee 3, Danxin Wang 3 4
03-01-2019
Impact of pharmacogenomics on clinical outcomes in major depressive disorder in the GUIDED trial: A large, patient- and rater-blinded, randomized, controlled study
John F Greden 1, Sagar V Parikh 2, Anthony J Rothschild 3, Michael E Thase 4, Boadie W Dunlop 5, Charles DeBattista 6, Charles R Conway 7, Brent P Forester 8, Francis M Mondimore 9, Richard C Shelton 10, Matthew Macaluso 11, James Li 12, Krystal Brown 13, Alexa Gilbert 12, Lindsey Burns 12, Michael R Jablonski 12, Bryan Dechairo 14
01-04-2019
Adequate evidence to support improved outcomes in depression by primary care physicians compared to psychiatrists when using combinatorial pharmacogenomics
Julie-Anne Tanner 1, Paige E Davies 2, Nicholas C Voudouris 3, Bryan M Dechairo 4, James L Kennedy 5
11-15-2018
Combinatorial pharmacogenomics and improved patient outcomes in depression: Treatment by primary care physicians or psychiatrists
Julie-Anne Tanner 1, Paige E Davies 2, Nicholas C Voudouris 3, Anashe Shahmirian 4, Deanna Herbert 4, Nicole Braganza 4, Ana Gugila 2, Bryan M Dechairo 5, James L Kennedy 6
07-21-2018
Analytical validation of a psychiatric pharmacogenomic test
Michael R Jablonski 1, Nina King 1, Yongbao Wang 1, Joel G Winner 1, Lucas R Watterson 1, Sandra Gunselman 1, Bryan M Dechairo 1
02-07-2018
Pharmacogenetic analysis of opioid dependence treatment dose and dropout rate
Richard C Crist 1, James Li 2, Glenn A Doyle 1, Alex Gilbert 2, Bryan M Dechairo 2, Wade H Berrettini 1
01-15-2018
Beta-defensin 1, aryl hydrocarbon receptor and plasma kynurenine in major depressive disorder: metabolomics-informed genomics
Duan Liu 1, Balmiki Ray 1 2, Drew R Neavin 3, Jiabin Zhang 1 4, Arjun P Athreya 1 5, Joanna M Biernacka 6, William V Bobo 7, Daniel K Hall-Flavin 7, Michelle K Skime 7, Hongjie Zhu 8 9 10, Gregory D Jenkins 6, Anthony Batzler 6, Krishna R Kalari 6, Felix Boakye-Agyeman 1 11, Wayne R Matson 12 13, Swati S Bhasin 12 13, Taisei Mushiroda 14, Yusuke Nakamura 15, Michiaki Kubo 14, Ravishankar KIyer 5, Liewei Wang 1, Mark A Frye 7, Rima Kaddurah-Daouk 16 17 18, Richard M Weinshilboum 19
01-10-2018
Economic Utility: Combinatorial Pharmacogenomics and Medication Cost Savings for Mental Health Care in a Primary Care Setting
Lisa C Brown 1, Raymond A Lorenz 1, James Li 1, Bryan M Dechairo 2
02-17-2017
Use of combinatorial pharmacogenomic testing in two cases from community psychiatry
Eve S Fields 1, Raymond A Lorenz 2, Joel G Winner 2
08-16-2016
Preservation of Biospecimens at Ambient Temperature: Special Focus on Nucleic Acids and Opportunities for the Biobanking Community
Rolf Muller 1, Fay Betsou 2, Michael G Barnes 3, Keith Harding 4, Jacques Bonnet 5 6, Olga Kofanova 2, John H Crowe 7, International Society for Biological and Environmental Repositories (ISBER) Biospecimen Science Working Group
02-17-2016
Stress and glucocorticoid receptor transcriptional programming in time and space: Implications for the brain-gut axis
J W Wiley 1, G A Higgins 2 3, B D Athey 3
01-25-2016
Combinatorial Versus Individual Gene Pharmacogenomic Testing in Mental Health: A Perspective on Context and Implications on Clinical Utility
Joel G Winner 1, Bryan Dechairo 1
11-24-2015
A glutamatergic network mediates lithium response in bipolar disorder as defined by epigenome pathway analysis
Gerald A Higgins 1 2, Ari Allyn-Feuer 1, Edward Barbour 1, Brian D Athey 1 3
09-07-2015
Epigenomic mapping and effect sizes of noncoding variants associated with psychotropic drug response
Gerald A Higgins 1 2, Ari Allyn-Feuer 1, Brian D Athey 1 3
09-04-2015
The epigenome, 4D nucleome and next-generation neuropsychiatric pharmacogenomics
Gerald A Higgins 1 2, Ari Allyn-Feuer 2, Samuel Handelman 3, Wolfgang Sadee 3, Brian D Athey 2 4
09-04-2015
Combinatorial pharmacogenomic guidance for psychiatric medications reduces overall pharmacy costs in a 1 year prospective evaluation
Joel G Winner 1, Joseph M Carhart 1, C Anthony Altar 1, Seth Goldfarb 2, Josiah D Allen 1, Gabriela Lavezzari 2, Kelly K Parsons 2, Andrew G Marshak 1, Susan Garavaglia 2, Bryan M Dechairo 1
07-23-2015
The clinical validity and utility of combinatorial pharmacogenomics: Enhancing patient outcomes
Joachim Benitez 1, Michael R Jablonski 2, Josiah D Allen 2, Joel G Winner 3
03-24-2015
Clinical validity: Combinatorial pharmacogenomics predicts antidepressant responses and healthcare utilizations better than single gene phenotypes
C A Altar 1, J M Carhart 1, J D Allen 1, D K Hall-Flavin 2, B M Dechairo 1, J G Winner 1
02-17-2015
Title
Author
Conference
Publication Date
The Clinical Utility of Combinatorial Pharmacogenomic Testing for Patients with Depression: A Meta-Analysis
Ashley Archer
09-10-2020
Title
Author
Conference
Publication Date
A Combinatorial Pharmacogenomic Algorithm is Predictive of Sertraline Metabolism in Patients with Major Depressive Disorder
Elizabeth Cogan
12-08-2021
A Combinatorial Pharmacogenomic Algorithm is Predictive of Sertraline Metabolism in Patients with Major Depressive Disorder
Gautham Kartha
11-03-2021
Clinical utility of combinatorial pharmacogenetic testing in depression: Canadian patient- and rater-blinded, randomized, controlled trial and meta-analysis
Clement Zai
10-27-2021
Evaluating the role of pharmacogenetics in attention-deficit/hyperactivity disorder using human hepatocytes and enzyme inhibition in human liver microsomes
Rebecca A. Law
10-18-2021
Combinatorial pharmacogenomic testing for patients with MDD has greatest potential utility for individuals taking medications with significant gene-drug Interactions
Gautham Kartha
09-28-2021
Combinatorial pharmacogenomic testing for patients with MDD has greatest potential utility for individuals taking medications with significant gene-drug interactions
John F. Greden
09-21-2021
A Combinatorial Pharmacogenomic Algorithm is Predictive of Sertraline Metabolism in Patients with Major Depressive Disorder
Sagar V. Parikh
09-21-2021
Clinical utility of combinatorial pharmacogenetic testing in depression: Canadian patient- and rater-blinded, randomized, controlled trial and meta-analysis
James L. Kennedy
06-04-2021
Combinatorial pharmacogenomics in MDD has greatest potential utility for patients taking medications with significant gene-drug interactions
John Greden
05-01-2021
Combinatorial Pharmacogenomic Algorithm is Predictive of Sertraline Metabolism in Patients with Major Depressive Disorder
Sagar Parikh
05-01-2021
Pharmacogenetics of Clozapine-induced Agranulocytosis: A Systematic Review and Meta-Analysis
Farhana Islam
04-29-2021
Clinical utility of combinatorial pharmacogenetic testing in depression: Canadian patient- and rater-blinded, randomized, controlled trial and meta-analysis
Arun Tiwari
04-29-2021
The Clinical Utility of Combinatorial Pharmacogenetic Testing for Patients with Depression: A Meta‐Analysis
Rachel Daut
03-18-2021
Pharmacogenomic Testing to Inform Prescribing in Patients with Behavioral and Psychiatric Symptoms of Dementia (BPSD): Results from Two Small, Randomized, Controlled Trials
Julie-Anne Tanner
03-15-2021
The Clinical Utility of Combinatorial Pharmacogenomic Testing for Patients with Depression: A Meta-Analysis
John Greden
02-08-2021
Clinical utility of combinatorial pharmacogenetic testing in depression: Canadian patient- and rater-blinded, randomized, controlled trial
James Kennedy
12-06-2020
Combinatorial Pharmacogenomic Testing Outperforms Individual Pharmacokinetic Gene Guidelines When Predicting Blood Levels of Psychotropic Medications and Clinical Outcomes in Patients with Depression
Anthony J. Rothschild
12-06-2020
Defining and Measuring Safety of Combinatorial Pharmacogenomic Testing for Patients with Major Depressive Disorder (MDD)
Sagar Parikh
11-05-2020
The Clinical Utility of Combinatorial Pharmacogenomic Testing for Patients with Depression: A Meta-Analysis
Rachel Daut
10-16-2020
Primary, Secondary, and Meta-Analyses in Pharmacogenomics Clinical Trials: Where is Truth?
Julie-Anne Tanner
10-16-2020
The Clinical Utility of Combinatorial Pharmacogenomic Testing for Patients with Depression: A Meta-Analysis
Bondee Mansaray
10-13-2020
Defining and Measuring Safety of Combinatorial Pharmacogenomic Testing for Patients with Major Depressive Disorder (MDD)
Sagar Parikh
10-01-2020
The Clinical Utility of Combinatorial Pharmacogenomic Testing for Patients with Depression: A Meta-Analysis
Talal Al Habbab
09-10-2020
The Clinical Utility of Combinatorial Pharmacogenomic Testing for Patients with Depression: A Meta-Analysis
Rachel Daut
09-09-2020
Association of Single-Nucleotide Polymorphisms of C-Reactive Protein Gene with C-Reactive Protein Blood Levels and Outcomes in Treatment-Resistant Bipolar Depression Treated with Escitalopram and Celecoxib
Angelos Halaris
05-01-2020
Combinatorial Pharmacogenomic Testing Improves Outcomes for Patients Taking Medications with Gene-Drug Interactions in a Randomized, Controlled Trial
Gautham Kartha
04-26-2020
The Clinical Utility of Combinatorial Pharmacogenomic Testing for Patients with Depression: A Meta-Analysis
Rahul Sehgal
04-26-2020
The Clinical Utility of Combinatorial Pharmacogenomic Testing for Patients with Depression: A Meta-Analysis
Oliver Vranjkovic
03-19-2020
Combinatorial Pharmacogenomic Algorithm is Predictive of Citalopram and Escitalopram Metabolism in Patients with Major Depressive Disorder
Aime Lopez Aguilar
02-20-2020
Clinical Validation Publications
Clinical Utility Publications
Analytical Validity Publications
Supporting Publications
Posters
Title
Author
Reference
Sample Type
Patient Count
Primary Endpoint
The clinical cell-cycle risk (CCR) score is associated with metastasis after radiation therapy and provides guidance on when to forgo combined androgen deprivation therapy with dose-escalated radiation
Jonathan Tward , Lauren Lenz , Darl D Flake 2nd, Saradha Rajamani , Carl Olsson, Deepak A Kapoor, Constantine Mantz , Stanley L Liauw, Tatjana Antic, Neal Shore, Dan Albertson, Jonathan Henderson, Steve P Lee, Hiram A Gay, Jeff Michalski, Arthur Hung, David Raben, Isla Garraway, Michael S Lewis, Paul L Nguyen, David T Marshall, Michael K Brawer, Steven Stone, Todd Cohen
International Journal of Radiation Oncology, Biology, Physics
Biopsy
741
Metastases
Validation of the cell cycle progression score to differentiate indolent from aggressive prostate cancer in men diagnosed through transurethral resection of the prostate biopsy
Jack M Cuzick , Steven Stone, Lauren Lenz, Darl D Flake , Saradha Rajamani , Henrik Moller , Daniel Maurice Berney , Todd Cohen , Peter T Scardino
Cancer Reports
TURP
305
Mortality
Cell-cycle risk score more accurately determines the risk for metastases and death in prostatectomy patients compared with clinical features alone
Gregory P. Swanson, Lauren Lenz, Steven Stone, Todd Cohen
The Prostate
Radical Prostatectomy
360
Metastases
Mortality
Personalizing localized prostate cancer: Validation of a combined clinical cell-cycle risk (CCR) score threshold for prognosticating benefit from multimodality therapy
Jonathan D. Tward, Thorsten Schlomm, Stephen Bardot, Daniel J. Canter, Troy Scroggins, Stephen J. Freedland, Lauren Lenz, Darl D. Flake, Todd Cohen, Michael K. Brawer, Steven Stone, Jay Bishoff
Clinical Genitourinary Cancer
Biopsy
718
Metastases
Prognostic capabilities and clinical utility of cell cycle progression testing, prostate imaging reporting and data system, version 2, and clinicopathologic data in management of localized prostate cancer
David S. Morris, J. Scott Woods, Byard Edwards, Lauren Lenz, Jennifer Logan, Darl D. Flake, Brent Mabey, Jay T. Bishoff, Todd Cohen, Steve Stone
Urologic Oncology
Biopsy
222
Adverse Pathology
Multiple Tissue Biomarkers Independently and Additively Predict Prostate Cancer Pathology Outcomes
Matthew R. Cooperberg, Janet E. Cowan, Karla J. Lindquist, Yasuko Kobayashi, Jeffry P. Simko, Henrik Bengtsson, Khushboo Singh, Vy Ngo, Andrew Avila, Lisa F. Newcomb, Maria Tretriakova, Daniel W. Lin, Steven Stone, Peter R. Carroll, Pamela L. Paris
Biopsy
641
Adverse Pathology
Analysis of the prognostic utility of the cell cycle progression (CCP) score generated from needle biopsy in men treated with definitive therapy
Daniel J. Canter, Stephen Freedland, Saradha Rajamani, Maria Latsis, Margaret Variano, Shams Halat, Jonathan Tward, Todd Cohen, Steven Stone, Thorsten Schlomm, Jay Bishoff, Stephen Bardot
Prostate Cancer and Prostatic Diseases
Biopsy
1062
Metastases
Clinical outcomes in men with prostate cancer who selected active surveillance using a clinical cell-cycle risk score
Sanjeev Kaul, Kirk J. Wojno, Steven Stone, Brent Evans, Ryan Bernhisel, Stephanie Meek, Richard E. D’Anna, Jeffrey Ferguson, Jeffrey Glaser, Todd M. Morgan, Jeremy Lieb, Robert Yan, Todd Cohen, Behfar Ehdaie
Personalized Medicine
Biopsy
664
Biochemical Recurrence
Comparison of cell cycle progression score with two immunohistochemical markers (PTEN and Ki-67) for predicting outcome in prostate cancer after radical prostatectomy
Priscilla LéonEmail author, Geraldine Cancel-Tassin, Sara Drouin, Marie Audouin, Justine Varinot, Eva Comperat, Xavier Cathelineau, François Rozet, Christophe Vaessens, Steven Stone, Julia Reid, Zaina Sangale, Patrick Korman, Morgan Rouprêt, Gaelle Fromond-Hankard, Olivier Cussenot
Radical Prostatectomy
652
Biochemical Recurrence
Comparing the Prognostic Utility of the CCP Score for Predicting Clinical Outcomes in African American and Non-African American Men with Localized Prostate Cancer
Daniel J. Canter, MD, Julia Reid, MStat, Maria Latsis, MS, CCRC, Margaret Variano, MPH, Shams Halat, MD, Saradha Rajamani, MStat, Kristen E. Gurtner, MD, Zaina Sangale, MD, Michael Brawer, MD, Steven Stone, PhD, Stephen Bardot, MD
Biopsy
767
Metastases
PROLARIS AS THRESHOLD VALIDATED IN A COHORT OF CONSERVATIVELY MANAGED MEN
Lin DW, Crawford ED, Keane T, Evans B, Reid J, Rajamani S, Brown K, Gutin A, Tward J, Scardino P, Brawer M, Stone S, Cuzick J.
Biopsy
585
Mortality
Prognostic Utility of Biopsy-Derived Cell Cycle Progression Score in Patients with NCCN Low-Risk Prostate Cancer Undergoing Radical Prostatectomy: Implications for Treatment Guidance
Jeffrey T. Tosoian, Meera R. Chappidi, Jay T. Bishoff, Stephen J. Freedland, Julia Reid, Michael Brawer, Steven Stone, Thorsten Schlomm, Ashley E. Ross
Biopsy
236
Biochemical Recurrence
Use of the cell cycle progression (CCP) score for predicting systemic disease and response to radiation of biochemical recurrence
Michael O. Koch, Jane S. Cho, Hristos Z. Kaimakliotis, Liang Cheng, Zaina Sangale, Michael Brawer, William Welbourn, Julia Reid and Steven Stone
Koch MO et al., Cancer Biomarkers. 2016;17(1):83-88.
Radical Prostatectomy
47
Metastases
Biochemical Recurrence
Validation of an RNA cell cycle progression score for predicting death from prostate cancer in a conservatively managed needle biopsy cohort
J. Cuzick, S. Stone, G. Fisher, Z. H. Yang, B. V. North, D. M. Berney, L. Beltran, D. Greenberg, H. Moller, J. E. Reid, A. Gutin, J. S. Lanchbury, M. Brawer, P. Scardino
Biopsy
761
Mortality
Prognostic utility of the cell cycle progression score generated from biopsy in men treated with prostatectomy
J. T. Bishoff, S. J. Freedland, L. Gerber, P. Tennstedt, J. Reid, W. Welbourn, M. Graefen, Z. Sangale, E. Tikishvili, J. Park, A. Younus, A. Gutin, J. S. Lanchbury, G. Sauter, M. Brawer, S. Stone, T. Schlomm
Biopsy
585
Metastases
Biochemical Recurrence
Prognostic utility of cell cycle progression score in men with prostate cancer after primary external beam radiation therapy
S. J. Freedland, L. Gerber, J. Reid, W. Welbourn, E. Tikishvili, J. Park, A. Younus, A. Gutin, Z. Sangale, J. S. Lanchbury, J. K. Salama, S. Stone
Biopsy
141
Biochemical Recurrence
Prognostic value of a cell cycle progression signature for prostate cancer death in a conservatively managed needle biopsy cohort
J. Cuzick, D. M. Berney, G. Fisher, D. Mesher, H. Moller, J. E. Reid, M. Perry, J. Park, A. Younus, A. Gutin, C. S. Foster, P. Scardino, J. S. Lanchbury, S. Stone, G. Transatlantic Prostate
Biopsy
349
Mortality
Validation of a Cell-Cycle Progression Gene Panel to Improve Risk Stratification in a Contemporary Prostatectomy Cohort
Matthew R. Cooperberg, Jeffry P. Simko, Janet E. Cowan, Julia E. Reid, Azita Djalilvand, Satish Bhatnagar, Alexander Gutin, Jerry S. Lanchbury, Gregory P. Swanson, Steven Stone, Peter R. Carroll
Journal of Clinical Oncology, 2012
Radical Prostatectomy
413
Biochemical Recurrence
Prognostic Value of an RNA Expression Signature Derived from Cell Cycle Proliferation Genes in Patients with Prostate Cancer: A Retrospective Study
Jack Cuzick, Gregory P Swanson, Gabrielle Fisher, Arthur R Brothman, Daniel M Berney, Julia E Reid, David Mesher, VO Speights, Elzbieta Stankiewicz, Christopher S Foster, Henrik Møller, Peter Scardino, Jorja D Warren, Jimmy Park, Adib Younus, Darl D Flake, Susanne Wagner, Alexander Gutin, Jerry S Lanchbury , Steven Stone, on behalf of the Transatlantic Prostate Group
Radical Prostatectomy
TURP
703
Mortality
Biochemical Recurrence
Title
Author
Reference
Sample Type
Patient Count
Prognostic capabilities and clinical utility of cell cycle progression testing, prostate imaging reporting and data system, version 2, and clinicopathologic data in management of localized prostate cancer
David S. Morris, J. Scott Woods, Byard Edwards, Lauren Lenz, Jennifer Logan, Darl D. Flake, Brent Mabey, Jay T. Bishoff, Todd Cohen, Steve Stone
Urologic Oncology
Biopsy
222
Clinical Utility of Gene Expression Classifiers in Men With Newly Diagnosed Prostate Cancer
Jonathan C. Hu, Jefrey J. Tosoian, Ji Qi, Deborah Kaye, Anna Johnson, Susan Linsell, James E. Montie, Khurshid R. Ghani, David C. Miller, Kirk Wojno, Frank N. Burks, Daniel E. Spratt, Todd M. Morgan
Biopsy
747
Clinical outcomes in men with prostate cancer who selected active surveillance using a clinical cell-cycle risk score
Sanjeev Kaul, Kirk J. Wojno, Steven Stone, Brent Evans, Ryan Bernhisel, Stephanie Meek, Richard E. D’Anna, Jeffrey Ferguson, Jeffrey Glaser, Todd M. Morgan, Jeremy Lieb, Robert Yan, Todd Cohen, Behfar Ehdaie
Personalized Medicine 2019
Biopsy
664
PROLARIS AS THRESHOLD VALIDATED IN A COHORT OF CONSERVATIVELY MANAGED MEN
Lin DW, Crawford ED, Keane T, Evans B, Reid J, Rajamani S, Brown K, Gutin A, Tward J, Scardino P, Brawer M, Stone S, Cuzick J.
Biopsy
585
Impact of the Cell Cycle Progression Test on Physician and Patient Treatment Selection for Localized Prostate Cancer
N. D. Shore, N. Kella, B. Moran, J. Boczko, F. J. Bianco, E. D. Crawford, T. Davis, K. M. Roundy, K. Rushton, C. Grier, R. Kaldate, M. K. Brawer, M. L. Gonzalgo
Biopsy
1,206
Cell cycle progression score and treatment decisions in prostate cancer: results from an ongoing registry
E. D. Crawford, M. C. Scholz, A. J. Kar, J. E. Fegan, A. Haregewoin, R. R. Kaldate, M. K. Brawer
Biopsy
331
Title
Author
Reference
Sample Type
Analytical Validation of a Cell Cycle Progression Signature Used as a Prognostic Marker in Prostate Cancer
Warf, B. M, Reid, E. Julia, Brown, L. Krystal, Kimbrell, Hillary, Kolquist, A. Kathryn, Stone, R. Steven and, Benjamin
Radical Prostatectomy
Biopsy
Title
Author
Reference
Personalize prostate cancer treatment decisions based on consistent data
Myriad Genetic Laboratories - White Paper
The clinical cell-cycle risk score is associated with metastasis after radiation therapy and may identify men with prostate cancer who can forgo combined androgen deprivation therapy
Jonathan Tward
Health economic impact of a biopsy- cell cycle gene expression assay in localized prostate cancer
Gary Gustavsen, Kelsey Taylor, Doria Cole, Laura Gullet & Nicolas Lewine
Future Medicine 12/2019
Applying Prolaris Data to Simon Evidentiary Framework
Myriad Genetic Laboratories - White Paper
Clinical utility of a biopsy-based cell cycle gene expression assay in localized prostate cancer
N. Shore, R. Concepcion, D. Saltzstein, M. S. Lucia, A. van Breda, W. Welbourn, N. Lewine, G. Gustavsen, K. Pothier, M. K. Brawer
Curr. Med. Res. Opin., 2013
Title
Author
Conference
Publication Date
Predicting Absolute Benefit in Risk of Metastasis of Androgen Deprivation Therapy added to Radiation Therapy in Patients with Newly Diagnosed Prostate Cancer
Jonathan Tward
06-03-2023
Combined Clinical Risk score-based thresholds across National Comprehensive Cancer Network (NCCN) intermediate risk patients with prostate cancer
Jonathan D Tward MD,PhD, lauren Lenz MS, Adam Cole MD, Jason Hafrom MD, Edward Uchio MD, Robert Finch CGC, Sarah Tatzel PHD, Thomas Slavin MD, Todd Cohen MD
11-04-2022
Influence of Cell Cycle Progression Molecular Testing on Selection Durability of Active Surveillance in Patients with NCCN Intermediate-Risk Prostate Cancer
Todd Morgan
12-22-2021
Cell Cycle Progression score and PTEN as prognostic factors for metastasis in intermediate and high-risk prostate cancer overall, and in those who also received salvage radiotherapy
Bruce J. Trock, Brent Maybey, Saradha Rajamani, Stephanie A. Glavaris, Gunes Guner, Unur Ertunc, Ibrahim Julac, Javier A. Baena, Tracy Jones, Misop Han, Alan W. Partin, Todd Cohen, Steven Stone, Angelo M. De Marzo Brady Urological Institute, Johns Hopkins University School of Medicine, Baltimore MD, Myriad Genetics, Inc., Salt Lake City, UT, Department of Pathology, Johns Hopkins University School of Medicine, Baltimore, MD
09-15-2021
The clinical cell-cycle risk score is associated with metastasis after radiation therapy and may identify men with prostate cancer who can forgo combined androgen deprivation therapy
Todd Cohen
07-14-2021
Cell Cycle Progression Score and PTEN as Prognostic Factors for Metastasis in Intermediate-and High-Risk Prostate Cancer Overall and in Men who also Received Salvage Radiotherapy
Bruce Trock
02-11-2021
Ability of cell cycle progression score to predict risk for progression to metastatic disease and disease-specific mortality in prostate cancer patients after prostatectomy
Gregory Swanson
05-29-2020
Renal Biopsy Cell Cycle Proliferation (CCP) Score Predicts Adverse Surgical Pathology in Renal Cell Carcinoma
Jeffrey J. Tosoian, Adam S. Feldman, Madeline R. Abbott, Rohit Mehra, PlacedeTiemeny, J. Stuart Wolf, Jr., Steven Stone, ShulinWu, Stephanie Daignault-Newton, Jeremy M.G. Taylor, Chin-Lee Wu, Todd M. Morgan
04-08-2020
Renal Biopsy Cell Cycle Proliferation (CCP) Score Predicts Adverse Surgical Pathology in Renal Cell Carcinoma
Jeff Tosoian
02-15-2020
Ability of the Combined Clinical-Cell Cycle Risk Score to Identify Patients who Benefit from Multi versus Single Modality Therapy in NCCN Intermediate and High Risk Prostate Cancer
Jonathan Tward
02-13-2020
PROGNOSTIC AND CLINICAL UTILITY CAPABILITIES OF CELL CYCLE PROGRESSION TESTING, PROSTATE IMAGING-REPORTING AND DATA SYSTEM SCORING, AND CLINICOPATHOLOGIC DATA IN MANAGEMENT OF LOCALIZED PROSTATE CANCER
Steve Stone
01-23-2020
PROGNOSTIC AND CLINICAL UTILITY CAPABILITIES OF CELL CYCLE PROGRESSION TESTING, PROSTATE IMAGING-REPORTING AND DATA SYSTEM SCORING, AND CLINICOPATHOLOGIC DATA IN MANAGEMENT OF LOCALIZED PROSTATE CANCER
David Morris
12-04-2019
Pooled Analysis of the Prognostic Utility of the Cell Cycle Progression Score Generated from Needle Biopsy in Men Definitively Treated for Localized Prostate Cancer
Kristen Gurtner
03-15-2019
Biopsy-Derived Cell Cycle Progression Score Outperforms Pathologic Upgrading or Upstaging in Predicting Biochemical Recurrence After Surgery
Kristen Gurtner
03-14-2019
Biopsy-Derived Cell Cycle Progression Score Outperforms Pathologic Upgrading or Upgrading or Upstaging in Predicting Biochemical Recurrence After Surgery
Daniel Canter
01-25-2019
Biopsy-Derived Cell Cycle Progression Score Outperforms Pathologic Upgrading or Upstaging in Predicting Biochemical Recurrence After Surgery
Steve Stone
01-24-2019
Biopsy-Derived Cell Cycle Progression Score Outperforms Pathologic Upgrading or Upstaging in Predicting Biochemical Recurrence After Surgery
Kristen Gurtner
01-01-2019
Outcomes of Men with Prostate Cancer Managed with Active Surveillance and Tested with a Clinical Cell-Cycle Risk Score
Sanjeev Kaul
01-01-2019
Inherited Germline Mutations in Men with Primary and Secondary Prostate Cancer
Edward Uchio, MD; Greg Gin, MD; Cory Hugen, MD; Karen Copeland, MS, MBA; Katie Larson, MS; Ryan Bernhisel, MStat; Kaylee Henson, MS, CGC; Johnathan Lancaster, MD, PhD; Todd Cohen, MD
11-28-2018
Renal Biopsy Cell Cycle Proliferation (CCP) Score Predicts Adverse Surgical Pathology in Renal Cell Carcinoma
Jeffrey J. Tosoian, MD, MPH Fellow
11-28-2018
Evaluation of Microarrays for Measuring CCP Gene Expression
Adam Cole, MD; Darl D. Flake, II, PhD; Saradha Rajamani, MStat; Todd Cohen, MD; Steve Stone, PhD
11-01-2018
Biopsy-Derived Cell Cycle Progression Score Outperforms Pathologic Upgrading or Upstaging in Predicting Biochemical Recurrence After Surgery
Daniel J. Canter
10-28-2018
Pooled Analysis of the Prognostic Utility of the Cell Cycle Progression Score Generated from Needle Biopsy in Men Definitively Treated for Localized Prostate Cancer
Daniel J. Canter, Jay Bishoff, Stephen Freedland, Julia Reid, Saradha Rajamani, Maria Latsis, Margaret Variano, Shams Halat, Michael Brawer, Steven Stone, Thorsten Schlomm, Stephen Bardot
05-18-2018
Evaluating cell cycle progression score as a prognostic marker for non-muscle invasive bladder cancer (NMIBC)
Christopher Weight
02-09-2018
Evaluation of a predefined active surveillance threshold in a large cohort of men with localized prostate cancer
Daniel Canter
02-08-2018
Evaluating the Impact of African American Ancestry among Men with Localized Prostate Cancer Treated with Radical Prostatectomy
Daniel Canter
02-08-2018
Patient Risk Reclassification Based on Combined ClinicalCell Cycle Risk (CCR) Score
Edward Uchio, Steven Stone, Ryan Bernhisel, E. David Crawford, Michael Brawer
08-08-2017
Patient NCCN Risk Classification Based on Combined Clinical Cell Cycle Risk (CCR) Score
E. David Crawford, Steven Stone, Julia E. Reid, Michael K. Brawer
05-16-2017
Comparing the Prognostic Utility of the CCP Score for Predicting Metastatic Disease in African American and Non-African American Men with Prostate Cancer
Stephen Bardot, Daniel Canter, Julia Reid, Maria Latsis, Margaret Variano, Shams Halat, Zaina Sangale, Michael Brawer, Steven Stone
05-12-2017
Prognostic Utility of Biopsy-Derived Cell Cycle Progression Score in Patients with NCCN Low-Risk Prostate Cancer Undergoing Radical Prostatectomy: Implications for Treatment Guidance
Jeffrey J. Tosoian, Meera R. Chappidi, Jay T. Bishoff, Stephen J. Freedland, Julia E. Reid, Michael K. Brawer, Steven Stone, Thorsten Scholomm, Ashley E. Ross
05-12-2017
The Impact of Clinical CCP Testing in Men with Localized Prostate Cancer for Expanding the Population of Men Eligible for Active Surveillance
Behfar Ehdaie, Steve Stone, Ryan Bernhisel, James Eastham, Thomas Keane, John Davis, E. David Crawford, Michael Brawer, Daniel Lin, Peter Scardino
05-12-2017
Patient NCCN Risk Classification Based on Combined Clinical Cell Cycle Risk (CCR) Score
Steven Stone, Julia E. Reid, Michael K. Brawer
02-17-2017
The Impact of Clinical CCP Testing in Men with Localized Prostate Cancer for Expanding the Population of Men Eligible for Active Surveillance
Behfar Ehdaie, Steve Stone, Ryan Bernhisel, James Eastham, Thomas Keane, John Davis, E.David Crawford, Michael Brawer, Daniel Lin, Peter Scardino
12-01-2016
Development and Validation of an Active Surveillance Threshold Based on the CCP score and CAPRA to Predict Risk of Aggressive Disease
Daniel W. Lin, E. David Crawford, Thomas E. Keane, Brent Evans, Julia E. Reid, Alexander S. Gutin, Jonathan D. Tward, Peter T. Scardino, MD, Michael K. Brawer, Steven Stone, Jack Cuzick
10-24-2016
Reduction in Therapeutic Burden from Use of CCP Test in Treatment Decisions among Newly Diagnosed Prostate Cancer Patients Independent of Charlson Comorbidity Index (CCI)
E. David Crawford, Matthew R. Cooperberg, Daniel W. Lin, Jonathan D. Tward, Rajesh Kaldate, Steve Stone, Michael K. Brawer, Neal D. Shore
10-24-2016
Evaluation of Microarrays for Measuring CCP Gene Expression
Matthew R. Cooperberg, Steven Stone, Darl D. Flake II, John W. Davis, Judd W. Moul, Jonathan D. Tward, Michael K. Brawer
10-24-2016
The CCP score provides significant prognostic information in Gleason score <7 patients
Mitchell R. Bassett, Jay T. Bishoff, Stephen J. Freedland, Thorsten Schlomm, Julia E. Reid, Brent Evans, Michael K. Brawer, Steven Stone, Jack Cuzick
10-24-2016
The CCP Score Provides Significant Prognostic Information in Gleason Score ≤ 6 Patients
Jay T. Bishoff, Stephen J. Freedland, Thorsten Schlomm, Julia E. Reid, Michael K. Brawer, Steven Stone, Jack Cuzick
05-06-2016
Significant Reduction in Theraputic Burden from Use of CCP Test in Treatment Decisions Among Newly Diagnosed Prostate Cancer Patients in a Large Prospectice Registry
Brian Willard; Todd Cohen; Neal Shore; Judd Boczko; Naveen Kella; Brian J Moran; Fernando J Bianco; E David Crawford; Rajesh Kaldate; Michael K Brawer; Mark L Gonzalgo
03-17-2016
Application of Active Surveillance Threshold to Series of Samples Submitted for Commercial Testing
Peter Scardino, Jack Cuzick, Steve Stone, Brent Evans, Matthew Jorgensen, James Eastham, Tom Keane, John Davis, Daniel Lin, Judd Moul, Michael Brawer, E. David Crawford
01-07-2016
Significant Reduction in Therapeutic Burden from Use of CCP Test in Treatment Decisions among Newly Diagnosed Prostate Cancer Patients in a Large Prospective Registry
Neal Shore, Judd Boczko, Naveen Kella, Brian J. Moran, Fernando J. Bianco, E. David Crawford, Stephanie A. Hamilton, Rajesh Kaldate, Kirstin M. Roundy, Michael K. Brawer, Mark L. Gonzalgo
12-02-2015
Significant Reduction in Therapeutic Burden from Use of CCP Test in Treatment Decisions among Newly Diagnosed Prostate Cancer Patients in a Large Prospective Registry
Philip Weintraub, Neal Shore, Adam Blatt, Shahin Chandrasoma, Lawrence Flechner, Gregory Barme, Judd Boczko, Naveen Kella, Brian J. Moran, Fernando J. Bianco, E. David Crawford, Rajesh Kaldate, Michael K. Brawer, Mark L. Gonzalgo
10-26-2015
Performance of CCP Assay in an Updated Series of Biopsy Samples Obtained from Commercial Testing
John W. Davis, E. David Crawford, Neal Shore, Peter T. Scardino, Jonathan D. Tward, Lowndes Harrison, Karen Kunz, Brent Evans, Lisa FitzGerald, Steven Stone, Michael K. Brawer
06-01-2015
Patient AUA Risk Classification Based on Combined Clinical Cell Cycle Risk (CCR) Score
Jack Cuzick, Steven Stone, Julia Reid, Gabrielle Fisher, Henrik Møller, Michael Brawer, Peter Scardino, Neal Shore
05-15-2015
Validation of an Active Surveillance Threshold for the CCP Score in Conservatively Managed Men with Localized Prostate Cancer
Jack Cuzick, Steven Stone, Gabrielle Fisher, Zi Hua Yang, Bernard V. North, Daniel M. Berney, Luis Beltran, David C. Greenberg, Henrik Moller, Julia E. Reid, Alexander Gutin, Jerry S. Lanchbury, Michael K. Brawer, Peter T. Scardino
05-15-2015
Evaluation of the Economic Impact of the CCP Assay in Localized Prostate Cancer
E. David Crawford, Doria Cole, Nicolas Lewine, Gary Gustavsen
02-26-2015
Predicting Radical Prostatectomy Outcome Among Men Who Upgrade from Clinical Gleason 6 to Pathologic Gleason 7
Matthew Cooperberg, Stephen J. Freedland, Thorsten Schlomm, Jula E. Reid, Steven Stone, Michael K. Brawer
05-20-2014
Prognostic Utility of the Cell Cycle Progression (CCP) Score Generated from Needle Biopsy in Men Treated with Prostatectomy
Jay T. Bishoff, Stephen J. Freedland, Leah Gerber, Pierre Tennstedt, Julia Reid, William Welbourn, Markus Graefen, Zaina Sangale, Eliso Tikishvili,Jimmy Park, Adib Younus, Alexander Gutin, Jerry S. Lanchbury, Guido Sauter, Michael Brawer, Steven Stone, Thorsten Schlomm
05-20-2014
Validation of a 46-Gene Cell Cycle Progression (CCP) RNA Signature for Predicting Prostate Cancer Death in a Conservatively Managed Watchful Waiting Needle Biopsy Cohort
Jack Cuzick, Steven Stone, Zi Hua Yang, Julia Reid, Gabrielle Fisher, Daniel Berney, Luis Beltran, Henrik Moller, David Greenberg, Michael Brawer, Alexander Gutin, Jerry Lanchbury, Peter Scardino
05-20-2014
Cell Cycle Progression-Combined Risk Score Stratifies Prostate Cancer Risk and Significantly Modifies Treatment Decisions in Prostate Cancer
Michael K. Brawer, E. David Crawford, Neal Shore, Peter Scardino, John W. Davis, Jonathan Tward, Lowndes Harrison, Ashok Kar, Mark Scholz, Jeffery Fegan, Kelsey Moyes, Rajesh Kaldate, Lisa Fitzgerald, Steven Stone
02-20-2014
Cell Cycle Progression (CCP) Score Significantly Modifies Treatment Decisions in Prostate Cancer: Results of an Ongoing Registry Trial
Ashok J. Kar, Mark Creamer Scholz, Jeffrey E. Fegan, E. David Crawford, Peter T. Scardino, Rajesh R. Kaldate, Michael K. Brawer
01-31-2014
CCP Score Stratifies Risk for Prostate Cancer Patients at Biopsy: Initial Commercial Results
E. David Crawford, Neal Shore, Peter T. Scardino, John W. Davis, Jonathan D. Tward, Lowndes Harrison, Kelsey Moyes, Lisa Fitzgerald, Steven Stone, Michael K. Brawer
12-06-2013
The CCP Score: A Novel Genetic Test for Prostate Cancer
Michael Brawer, Jack Cuzick, Matthew Cooperberg, Greg Swanson, Stephen Freedland, Julia Reid, Gabrielle Fisher, Jerry Lanchbury, Alexander Gutin, Steven Stone, Peter Carroll
10-31-2013
Cell Cycle Progression (CCP) Score Significantly Predicts PSA Failure After EBRT
Joseph K. Salama, Stephen J. Freedland, Leah Gerber, Julia E. Reid, William Welbourn, Alexander Gutin, Zaina Sangale, Michael K. Brawer, Steven Stone
09-22-2013
Prolaris: A Novel Genetic Test for Prostate Cancer Prognosis
Michael K. Brawer, Jack M. Cuzick, Matthew R. Cooperberg, Gregory P. Swanson, Stephen J. Freedland, Julia E. Reid, Gabrielle Fisher, Jerry S. Lanchbury, Alexander Gutin, Steven Stone, Peter Carroll, on behalf of the Transatlantic Prostate Group
05-31-2013
Validation of a cell-cycle progression gene panel to improve risk stratification in a contemporary prostatectomy cohort
M. R. Cooperberg, J. P. Simko, J. E. Cowan, J. E. Reid, A. Djalilvand, S. Bhatnagar, A. Gutin, J. S. Lanchbury, G. P. Swanson, S. Stone, P. R. Carroll
J. Clin. Oncol.
05-21-2013
Prognostic Utility of CCP Score in Men with Prostate Cancer After Primary EBRT
Stephen Freedland, Leah Gerber, Julia Reid, William Welbourn, Eliso Tikishvili, Jimmy Park, Adib Younus, Alexander Gutin, Zaina Sangale, Jerry S. Lanchbury, Joseph K. Salama, Steven Stone
05-08-2013
Value of Cell Cycle Progression Score to Predict Biochemical Recurrence and Post-Surgical Pathology
Thorsten Schlomm, Zaina Sangale, Jerry S. Lanchbury, Alexander Gutin, Julia Reid, Markus Graefen, Alexander Haese, Pierre Tennstedt, Stefan Steurer, Guido Sauter, Steve Stone
05-04-2013
Evidence for Cell Cycle Proliferation Field Effect in Prostate Cancer
David M. Berman, William Welbourn, Julia Reid, Elizabeth Humphries, Misop Han, Jerry Lanchbury, Alexander Gutin, Steven Stone, Filipe Carvalho
03-18-2013
Stratification of Risk for Patients with Prostate Cancer at Biopsy using CCP Score
Neal D. Shore, Brian Abbott, Raoul S. Concepcion, Daniel Saltzstein, Rajesh R. Kaldate, Kelsey Moyes, Arletta van Breda, Christopher Clark, Jennifer Saam, Michael K. Brawer
02-14-2013
Development and Validation of a Multivariate Model Combining Cell Cycle Progression Score with CAPRA to Predict Prostate Cancer Mortality in a Conservatively Managed Cohort
Michael Brawer, Mathew Cooperberg, Stephen Freedland, Gregory Swanson, Steven Stone, Julia Reid, Alexander Gutin, Peter Carroll, Jack Cuzick
11-28-2012
Cell Cycle Progression Genes Differentiate Indolent from Aggressive Prostate Cancer
Steven Stone, Jack Cuzick, Dan Berney, Julia Reid, David Mesher, Gabrielle Fisher, Jerry Lanchbury, Alexander Gutin, Greg Swanson, on behalf of the Transatlantic Prostate Group
02-06-2012
Validation of a Panel of Cell-Cycle Progression Genes for Improved Risk-Stratification in a Contemporary Radical Prostatectomy Cohort
Matthew R. Cooperberg, Jeffrey Simko, Janet E. Cowan, Julia E. Reid, Satish Bhatnagar, Alexander Gutin, Jerry S. Lanchbury, Steven Stone, Peter Carroll
02-02-2012
Cell Cycle Progression Genes Differentiate Indolent From Aggressive Prostate Cancer
Steven Stone, Jack Cuzick, Dan Berney, Julia Reid, David Mesher, Gabrielle Fisher, Jerry Lanchbury, Alexander Gutin, Greg Swanson, The Transatlantic Prostate Group
11-28-2011
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